Family Analysis

MUTATION TYPE: HOMOZYGOUS (Ex. 1/1, 2/1, 1/2) HETEROZYGOUS (Ex. 0/1, 0/2, 1/0, 2/0)	CHR: POS:	. PASS
VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
CDS CHROMOSOME LARGE DELETION CODON CHANGE CODON INSERTION CODON CHANGE PLUS CODON INSERTION CODON DELETION CODON CHANGE PLUS CODON DELETION DOWNSTREAM EXON EXON DELETED FRAME SHIFT GENE INTERGENIC INTERGENIC CONSERVED INTRAGENIC INTRON INTRON CONSERVED MICRO RNA NON SYNONYMOUS CODING NON SYNONYMOUS START NON SYNONYMOUS STOP RARE AMINO ACID SPLICE SITE ACCEPTOR SPLICE SITE DONOR SPLICE SITE REGION SPLICE SITE BRANCH SPLICE SITE BRANCH U12 STOP LOST START GAINED START LOST STOP GAINED SYNONYMOUS CODING SYNONYMOUS START SYNONYMOUS STOP TRANSCRIPT REGULATION UPSTREAM UTR 3 PRIME UTR 3 DELETED UTR 5 PRIME UTR 5 DELETED	NONE SILENT MISSENSE NONSENSE	HIGH MODERATE MODIFIER LOW
DBSNP BUILD: <= >= = EXCLUDE VARIANTS AT VARISNP	READ DEPTH: <= >= = QUAL: <= >= =	VARIANTS PER GENE: <= >= =
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES

DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP

ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP

OMIM
CGD	Alpha-2-macroglobulin deficiency Blood group, P system Achalasia-addisonianism-alacrimia syndrome Keratoderma, palmoplantar, punctate type IA Charcot-Marie-Tooth disease, axonal, type 2N Epileptic encephalopathy, early infantile, 29 Leukoencephalopathy, progressive, with ovarian failure Hyperlysinemia GABA-transaminase deficiency ABCA1 deficiency Tangier disease HDL deficiency, type 2 Ichthyosis, harlequin Ichthyosis, lamellar, type 2 Surfactant metabolism dysfunction, pulmonary, 3 Interstitial lung disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus Hypertrichosis terminalis, generalized, with or without gingival hyperplasia Colchicine metabolism, association with Cholestasis, progressive familial intrahepatic 2 Cholestasis, progressive familial intrahepatic 3 Low phospholipid-associated cholelithiasis 1 Cholestasis, oral contraceptives induced Cholestasis, familial intrahepatic, of pregnancy Gallbladder disease 1 Pseudohyperkalemia, familial, 2, due to red cell leak Blood group, Langereis system Anemia, sideroblastic, and spinocerebellar ataxia Apocrine gland secretion, variation in Dubin-Johnson syndrome Pseudoxanthoma elasticum Diabetes mellitus, transient neonatal, 2 Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia, leucine-induced Cardiomyopathy, dilated, 10 Atrial fibrillation, familial 12 Cantu syndrome Adrenoleukodystrophy Bile acid synthesis defect, congenital, 5 Methylmalonic aciduria and homocystinuria, cblJ type Blood group, junior system Sitosterolemia Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Chanarin-Dorfman syndrome Blood group, ABO system Isobutyryl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase family, member 9, deficiency of Acyl-CoA dehydrogenase, medium chain, deficiency of Acyl-CoA dehydrogenase, short-chain, deficiency of 2-methylbutyryl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase, very long chain, deficiency of Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis Alpha-methylacetoacetic aciduria Dyskeratosis congenita, autosomal dominant 6 Dyskeratosis congenita, autosomal recessive 7 Renal tubular dysgenesis ACE serum levels Blood group, Yt system Blood group, Duffy system Infantile cerebellar-retinal degeneration Optic atrophy 9 Peroxisomal acyl-CoA oxidase deficiency Spondyloenchondrodysplasia with immune dysregulation Combined malonic and methylmalonic aciduria Mental retardation, X-linked 63 Myopathy, congenital, with fiber-type disproportion 1 Nemaline myopathy 3 Myopathy, nemaline, with stiffness and hypertonia Myopathy, scapuloperoneal Moyamoya disease Multisystemic smooth muscle dysfunction syndrome Aortic aneurysm, familial thoracic 6 Baraitser-Winter syndrome 1 Cardiomyopathy, dilated , 1R Cardiomyopathy, familial hypertrophic 11 Cardiomyopathy, restrictive Left ventricular noncompaction Atrial septal defect 5 Deafness, autosomal dominant 20 Baraitser-Winter syndrome 2 Megacystis-microcolon-intestinal hypoperistalsis syndrome Visceral myopathy Bleeding disorder, platelet-type, 15 Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction Focal segmental glomerulosclerosis 1 Fibrodysplasia ossificans progressiva Heterotaxy, visceral, 4, autosomal Hereditary hemorrhagic telangiectasia, type 2 Aminoacylase 1 deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Reticulate acropigmentation of Kitamura Inflammatory skin and bowel disease, neonatal 1 Cone-rod dystrophy 9 Weill-Marchesani syndrome 1 Thrombotic thrombocytopenic purpura, familial Schulman-Upshaw syndrome Weill-Marchesani-like syndrome Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive Ehlers-Danlos syndrome, type VII Geleophysic dysplasia 1 Ectopia lentis, isolated, autosomal recessive Dyschromatosis symmetrica hereditaria Aicardi-Goutieres syndrome 6 Coenzyme Q10 deficiency Progressive cerebellar ataxia and atrophy Spinocerebellar ataxia 9 Nephrotic syndrome, type 9 Deafness, autosomal dominant 44 Dyskinesia, familial, with facial myokymia Lethal congenital contracture syndrome 8 Vibratory urticaria Polymicrogyria, bilateral frontoparietal Polymicrogyris, bilateral perisylvian Lethal congenital contracture syndrome 9 Usher syndrome, type IIC Hypermethioninemia due to adenosine kinase deficiency Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28) Beta-blocker response, association with Beta-2-adrenoreceptor agonist, reduced response to Adenylosuccinase deficiency Premature ovarian failure Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome) Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive AFP deficiency, congenital Hereditary persistence of AFP Aspartylglucosaminuria Corneal dystrophy, Fuchs endothelial, 8 Sengers syndrome Glycogen storage disease III Lipodystrophy, congenital generalized, type 1 Rhizomelic chondrodysplasia punctata, type 3 Myasthenic syndrome, congenital 8 Mental retardation, X-linked 88 Hyperoxaluria, primary, type 1 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome) Joubert syndrome 3 Immunodeficiency with hyper-IgM, type 2 Deafness, X-linked 5 Leukodystrophy, hypomyelinating, 3 Pituitary adenoma, familial isolated Leber congenital amaurosis 4 Retinitis pigmentosa, juvenile, AIPL1-related Cone-rod dystrophy, AIPL1-related Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia Adenylate kinase deficiency, hemolytic anemia due to Reticular dysgenesis Long QT syndrome 11 46,XY sex reversal 8 Bile acid synthesis defect, congenital, 2 Cowden syndrome 6 Proteus syndrome Hypoinsulinemic hypoglycemia with hemihypertrophy Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Porphyria, acute hepatic Anemia, sideroblastic 1 Protoporphyria, erythropoietic Dysalbuminemic hyperthyroxinemia Analbuminemia Cutis laxa, autosomal dominant 3 Spastic paraplegia 9A, autosomal dominant Cutis laxa, autosomal recessive, type IIIA Spastic paraplegia 9B, autosomal recessive Microphthalmia, isolated 8 Sjogren-Larsson syndrome Hyperprolinemia, type II Succinic semialdehyde dehydrogenase deficiency Methylmalonate semialdehyde dehydrogenase deficiency Epilepsy, pyridoxine-dependent Glycogen storage disease XII Fructose intolerance, hereditary Congenital disorder of glycosylation, type Ik Congenital disorder of glycosylation, type Ip Congenital disorder of glycosylation, type Ig Epileptic encephalopathy, early infantile, 36 Myasthenic syndrome, congenital 15 Congenital disorder of glycosylation, type Ii Myasthenic syndrome, congenital 14 Congenital disorder of glycosylation, type Id Congenital disorder of glycosylation, type Ic Congenital disorder of glycosylation, type Ih Congenital disorder of glycosylation, type Il Neuroblastoma, susceptibility to, 3 Alstrom syndrome Ichthyosiform erythroderma, congenital, nonbullous, 1 Asthma, diminished response to antileukotriene treatment in Hypophosphatasia, infantile Odontohypophosphatasia Spastic paralysis, infantile onset ascending Primary lateral sclerosis, juvenile Amyotrophic lateral sclerosis 2 Schizophrenia Frontonasal dysplasia 3 Frontonasal dysplasia 1 Parietal foramina 2 Frontonasal dysplasia 2 Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency Amelogenesis imperfecta type IF Amelogenesis imperfecta, type 1E Osteopathia striata with cranial sclerosis Persistent Mullerian duct syndrome, type I Persistent Mullerian duct syndrome, type II Megaloblastic anemia-1, Norwegian type Myoadenylate deaminase deficiency Pontocerebellar hypoplasia type 9 Spastic paraplegia 63 Erythrocytic AMP deaminase deficiency Glycine encephalopathy Amyotrophic lateral sclerosis 9 Hypobetalipoproteinemia, familial, 2 Spherocytosis, hereditary 1 Long QT syndrome, 4 Cardiac arrhythmia, ankyrin-B-related Craniometaphyseal dysplasia Chondrocalcinosis 2 Microcephaly, primary autosomal recessive, 16 KBG syndrome Thrombocytopenia 2 Nephronophthisis 16 Focal segmental glomerulosclerosis 8 Spinocerebellar ataxia, autosomal recessive 10 Craniocervical dystonia, autosomal dominant (Dystonia 24) Gnathodiaphyseal dysplasia Scott syndrome Kallmann syndrome 1 Hemangioma, capillary infantile, susceptibility to Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) Hyalinosis, infantile systemic Fibromatosis, juveline hyaline MEDNIK syndrome Mental retardation, X-linked syndromic, Fried type (Pettigrew syndrome) Psoriasis 15, pustular, susceptibility to Hypocalciuric hypercalcemia, familial, type III Hermansky-Pudlak syndrome 2 Spastic paraplegia 47, autosomal recessive Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive Spastic paraplegia 50, autosomal recessive Spastic paraplegia 52, autosomal recessive Spastic paraplegia 48, autosomal recessive Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary Hypotrichosis 1 Hypoalphalipoproteinemia Amyloidosis, systemic nonneuronopathic Apolipoprotein A-II deficiency Hyperchylomicronemia Hypobetalipoproteinemia, familial Hypercholesterolemia, familial Hyperlipoproteinemia, type Ib Apolipoprotein C-III deficiency Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III) Lipoprotein glomerulopathy Sea-blue histiocyte disease Mitochondrial complex IV deficiency Alzheimer disease, familial Cerebral amyloid angiopathy Maturity-onset diabetes of the young, type 14 Adenine phosphoribosyltransferase deficiency Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Blood group, Colton Diabetes insipidus, nephrogenic, autosomal Blood group, GIL Androgen insensitivity Androgen insensitivity, partial Heterotopia, periventricular, autosomal recessive Hyperargininemia Adams-Oliver syndrome 1 Nephrotic syndrome, type 8 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy) Mental retardation, X-linked 46 Epileptic encephalopathy, early infantile, 8 Mental retardation, autosomal dominant 14 Coffin-Siris syndrome 2 Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1 Joubert syndrome 8 Retinitis pigmentosa with or without situs inversus Retinitis pigmentosa 55 Bardet Biedl syndrome 3 Spastic paraplegia 61 Ciliary dyskinesia, primary, 23 ACTH-independent macronodular adrenal hyperplasia 2 Webb-Datani syndrome Metachromatic leukodystrophy Mucopolysaccharidosis type VI (Maroteaux-Lamy) Chondrodysplasia punctata 1, X-linked recessive Blood group, Dombrock Partington X-linked mental retardation syndrome Epileptic encephalopathy, early infantile, 1 Lissencephaly, X-linked 2 Hydranencephaly with abnormal genitalia Mental retardation, X-linked 29/32/33/38/43/54/76/87 Proud syndrome Corpus callosum, agenesis of, with abnormal genitalia Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy Barrett esophagus/Esophageal adenocarcinoma Central hypoventilation syndrome, congenital (Haddad syndrome) Skin/hair/eye pigmentation 9 Argininosuccinic aciduria Asparagine synthetase deficiency Aspartoacylase deficiency (Canavan disease) Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) Microcephaly, primary autosomal recessive, 5 Citrullinemia Bohring-Opitz syndrome Bainbridge-Ropers syndrome Ataxia, cerebellar, Cayman type Achromatopsia 7 AICAR transformylase/IMP cyclohydrolase deficiency Neuropathy, hereditary sensory, type 1D Spastic paraplegia 3, autosomal dominant Neuropathy, hereditary sensory, type IF Breast cancer, susceptibility to Ataxia-Telangiectasia Dentatorubro-pallidoluysian atrophy Persistent hyperplastic primary vitreous, autosomal recessive Parkinson disease 9 (Kufor-Rakeb syndrome) Ceroid lipofuscinosis, neuronal, 12 Alternating hemiplegia of childhood Migraine, familial hemiplegic 2 Alternating hemiplegia of childhood 2 Brody myopathy Darier-White disease Acrokeratosis verruciformis (Hopf disease) Spinocerebellar ataxia, X-linked 1 Benign chronic pemphigus Combined oxidative phosphorylation deficiency 22 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 Mental retardation, X-linked, syndromic, Hedera type Parkinsonism with spasticity, X-linked Cutis laxa, autosomal recessive, type IIA Wrinkly skin syndrome Renal tubular acidosis, distal, autosomal recessive Renal tubular acidosis with deafness Deafness, congenital, with onychodystrophy, autosomal dominant Zimmermann-Laband syndrome 2 Menkes disease Wilson disease Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1 Mental retardation-hypotonic facies syndrome, X-linked Juberg-Marsidi syndrome Carpenter-Waziri syndrome Holmes-Gang syndrome Smith-Fineman-Myers syndrome Alpha-thalassemia/mental retardation syndrome Spinocerebellar ataxia 1 Spinocerebellar ataxia 10 Spinocerebellar ataxia 2 Spinocerebellar ataxia 3 (Machado-Joseph disease) Spinocerebellar ataxia 7 Spinocerebellar ataxia 8 3-methylglutaconic aciduria, type I Spermatogenic failure 5 Mental retardation, autosomal dominant 26 Diabetes insipidus, neurohypophyseal Diabetes insipidus, nephrogenic, X-linked Caudal duplication anomaly Oligodontia-colorectal cancer syndrome Immunodeficiency 43 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 Ehlers-Danlos syndrome, progeroid type, 2 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Peters-plus syndrome Congenital disorder of glycosylation, type IId Ehlers-Danlos syndrome with short stature and limb anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 Meckel syndrome 9 Meckel syndrome 10 Hypercholanemia, familial Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6 Nestor-Guillermo progeria syndrome Tumor predisposition syndrome Bardet-Biedl syndrome 18 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 7 Bardet-Biedl syndrome 9 Blood group, Lutheran system Blood group, Auberger system Lutheran, null Deafness, dystonia, and cerebral hypomyelination Butyrlcholinesterase deficiency Maple syrup urine disease, type Ia Maple syrup urine disease, type Ib Branched-chain ketoacid dehydrogenase kinase deficiency Immunodeficiency 37 Severe speech sound disorder Hypercarotenemia and vitamin A deficiency, autosomal dominant Microphthalmia, syndromic 2 Oculofaciocardiodental syndrome CML treatment, response to Bjornstad syndrome Central hypoventilation syndrome, congenital Spinocerebellar ataxia 31 Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Cataract, cortical, juvenile-onset Cataract 12, multiple types Syndactyly, mesoaxial synostotic, with phalangeal reduction Short sleeper Renal dysplasia, cystic, susceptibility to Myopathy, centronuclear, 2 Maturity-onset diabetes of the young, type 11 Bloom syndrome Agammaglobulinemia 4 Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome 9 Hyperbiliverdinemia Osteogenesis imperfecta, type XIII Premature ovarian failure 4 Ovarian dysgenesis 2 Brachydactyly, type A2 Microphthalmia, syndromic 6 Orofacial cleft 11 Diaphanospondylodysostosis Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal Acromesomelic dysplasia, Demirhan type Brachydactyly, type A1, D Brachydactyly A2 Brachydactyly C/Symphalangism-like phenotype Pulmonary hypertension, primary Pulmonary venoocclusive disease 1 Aplasia cutis congenita, nonsyndromic Multiple mitochondrial dysfunctions syndrome 2 Bisphosphoglycerate mutase deficiency Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3 Rigidity and multifocal seizure syndrome, lethal neonatal Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma Cerebellofaciodental syndrome Breast cancer Fanconi anemia, complementation group J Mental retardation, X-linked 93 Lipodystrophy, congenital generalized, type 2 Encephalopathy, progressive, with or without lipodystrophy Blood group, OK Bartter syndrome, type 4A Sensorineural deafness with mild renal dysfunction Biotinidase deficiency Agammaglobulinemia, X-linked Agammaglobulinemia and isolated hormone deficiency Hypogammaglobulinemia, X-linked Mosaic variegated aneuploidy syndrome Premature chromatid separation trait Muscular dystrophy, limb-girdle, type 2X Albinism, oculocutaneous, type V Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Perrault syndrome 5 Leukodystrophy, hypomyelinating, 13 Corpus callosum hypoplasia, recessive Temtamy syndrome Combined oxidative phosphorylation deficiency 7 Spastic paraplegia 55, autosomal recessive Congenital dyserythropoietic anemia type Ib Neurodegeneration with brain iron accumulation 4 Spastic Paraplegia 43 C1q deficiency Late-onset retinal degeneration Complement component C1s deficiency Complement component 2 deficiency Ciliary dyskinesia, primary 26 Orofaciodigital syndrome XIV Retinitis pigmentosa 54 Complement component 3 deficiency, autosomal recessive Hemolytic uremic syndrome, atypical, susceptibility to, 5 Blood group, Chido/Rodgers system Complement component 4B deficiency Eculizumab, poor response to Complement component 5 deficiency Joubert syndrome 17 Orofaciodigital syndrome VI Complement component 6 deficiency Complement component 7 deficiency Complement component 8 deficiency, type I Complement component 8 deficiency, type II Retinitis pigmentosa 64 Cone-rod dystrophy 16 Complement component 9 deficiency Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Hyperchlorhidrosis, isolated Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Retinitis pigmentosa 17 Carbonic anhydrase VA deficiency Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Deafness, autosomal recessive 93 Cone-rod synaptic disorder, congenital nonprogressive Episodic ataxia, type 2 Migraine, familial hemiplegic 1 Dystonia 23 Brugada syndrome 3 Timothy syndrome Primary aldosteronism, seizures, and neurologic abnormalities Sinoatrial node dysfunction and deafness Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary, X-linked, type 2A Spinocerebellar ataxia 42 Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1 Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive Retinal cone dystrophy 4 Brugada syndrome 4 Episodic ataxia, type 5 Mental retardation, autosomal dominant 10 Congenital disorder of glycosylation, type Iz Long QT syndrome 14 Recurrent cardiac arrest, infantile Ventricular tachycardia, catecholaminergic polymorphic, 4 Long QT syndrome 15 Cardiomyopathy, familial hypertrophic, 19 Cerebellar ataxia, nonprogressive, with mental retardation Desbuquois dysplasia 1 Spastic paraplegia 76, autosomal recessive Muscular dystrophy, limb-girdle, type 2A Eosinophilic myositis Vitreoretinopathy, neovascular inflammatory B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11 Psoriasis 2 Candidiasis, familial, 2 Combined oxidative phosphorylation deficiency 27 Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4 Mental retardation, with or without nystagmus Autoimmune lymphoproliferative syndrome, type IIA Caspase 8 defiency Myopathy, vacuolar, with CASQ1 aggregates Bardet-Biedl syndrome 14 Ventricular tachycardia, catecholaminergic, polymorphic, 2 Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal severe primary Hypoparathyroidism, familial isolated Hyperparathyroidism, familial primary Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) Acatalasemia Lipodystrophy, congenital generalized, type 3 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Cardiomyopathy, familial hypertrophic Long QT syndrome 9 Creatine phosphokinase, elevated serum Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia, familial Homocystinuria due to cystathionine beta-synthase deficiency 46,XY sex reversal 5 Mental retardation, autosomal recessive 3 Joubert syndrome 9 Meckel syndrome 6 COACH syndrome Hennekam lymphangiectasia-lymphedema syndrome Ciliary dyskinesia, primary, 17 Ciliary dyskinesia, primary, 20 Congenital disorder of glycosylation, type IIo Hypotonia, infantile, with psychomotor retardation Ciliary dyskinesia, primary,30 Ritscher-Schinzel syndrome 2 Bardet-Biedl syndrome, modifier of Ciliary dyskinesia, primary, 14 Ciliary dyskinesia, primary, 15 Ciliary dyskinesia, primary, 27 Three M syndrome 3 Spinocerebellar ataxia 40 Cerebral cavernous malformations 2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Ciliary dyskinesia, primary 29 Neuropathy, hereditary sensory, with spastic paraplegia Raph blood group Immunodeficiency, common variable 3 Birbeck granule deficiency Immunodeficiency due to defect in CD3-Zeta Lymphoproliferative syndrome 2 Focal segmental glomerulosclerosis 3 Methylmalonic aciduria due to transcobalamin receptor defect Platelet glycoprotein IV deficiency Immunodeficiency 19 Immunodeficiency 18 Immunodeficiency 17 OKT4 epitope deficiency Immunodeficiency with Hyper-IgM, type 3 Immunodeficiency, with hyper-IgM, type 1 Blood group, Indian Hemolytic uremic syndrome, atypical, susceptibility to, 2 Blood group, Cromer system CD59 deficiency Agammaglobulinemia 3 Agammaglobulinemia 6 Immunodeficiency, common variable, 6 CD8 deficiency, familial C syndrome( Opitz Trigonocephaly syndrome) Anemia, dyserythropoietic congenital, type Ia Takenouchi-Kosaki syndrome Meier-Gorlin syndrome 5 Hyperparathyroidism 1 Hyperparathyroidism-jaw tumor syndrome Carcinoma, parathyroid Immunodeficiency-centromeric instability-facial anomalies syndrome 3 CDH1-related cancer Mental retardation, autosomal dominant 3 Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Cone-rod dystrophy 15 Retinitis pigmentosa 65 Melanoma, cutaneous malignant, susceptibility to, 3 Lissencephaly 7 with cerebellar hypoplasia Microcephaly, primary autosomal recessive, 3 Microcephaly 12, primary, autosomal recessive Epileptic encephalopathy, early infantile, 2 Rett syndrome, atypical Angelman-like syndrome Multiple endocrine neoplasia, type IV IMAGE syndrome Beckwith-Wiedemann syndrome Melanoma, familial Melanoma-pancreatic cancer syndrome Holoprosencephaly 11 Hypotrichosis 2 Peeling skin syndrome 1 Meier-Gorlin syndrome 4 Deafness, autosomal dominant 4B Acute myeloid leukemia, familial Specific granule deficiency Polyarteritis nodosa, childhood-onset (ADA2 deficiency) Sneddon syndrome Maturity-onset diabetes of the young, type 8 Microcephaly 13, primary, autosomal recessive Ciliary dyskinesia, primary 31 (Stromme syndrome) Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6 Short-rib thoracic dysplasia 13 with or without polydactyly Microcephaly 8, primary, autosomal recessive Seckel syndrome 5 Microcephaly 9, primary, autosomal recessive Nephronophthisis 15 Morbid obesity and spermatogenic failure Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome 15 Mosaic variegated aneuploidy syndrome 2 Seckel syndrome 6 Nephronophthisis 18 Retinitis pigmentosa 26 Epilepsy, progressive myoclonic 8 Ichthyosis, congenital, autosomal recessive 9 Carboxylesterase 1 deficiency Hyperalphalipoproteinemia 1 Heterotaxy, visceral, 6, autosomal recessive van der Woude syndrome 2 Hemolytic uremic syndrome, atypical Complement factor B deficiency Transposition of the great arteries, dextro-looped 2 Double-outlet right ventricle Heterotaxy, visceral, 2, autosomal Complement factor D deficiency Complement factor H deficiency Hemolytic-uremic syndrome, atypical, susceptibility to Complement factor I deficiency Nemaline myopathy 7 Properdin deficiency, X-linked Cystic fibrosis Mental retardation, autosomal dominant 40 Myasthenic syndrome, congenital 6, presynaptic Myopathy, isolated mitochondrial, autosomal dominant Parkinson disease 22, autosomal dominant Epileptic encephalopathy, childhood-onset CHARGE syndrome Hypogonadotropic hypogonadism 5 with or without anosmia Autism, susceptibility to 18 Li-Fraumeni syndrome 2 Chitotriosidase deficiency Muscular dystrophy, congenital, megaconial type Choiroideremia Pontocerebellar hypoplasia, type 8 Amyotrophic lateral sclerosis, CHMP2B-related Dementia, familial, nonspecific Frontotemporal dementia, chromosome 3-linked Cataract 31, multiple types Duane retraction syndrome 2 Megalocornea 1, X-linked Eagle-Barrett syndrome Myasthenic syndrome, congenital, 1B, fast channel Myasthenic syndrome, congenital, 1A, slow-channel congenital Epilepsy, nocturnal frontal lobe, type 4 Epilepsy, nocturnal frontal lobe, type 1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, slow-channel congenital, 2A Epilepsy, nocturnal frontal lobe, type 3 Myasthenic syndrome, congenital, fast channel Myasthenic syndrome,congenital, slow-channel Myasthenic syndrome, congenital, 3C Myasthenic syndrome, fast-channel congenital Myasthenic syndrome, slow-channel congenital Multiple pterygium syndrome Escobar syndrome Ehlers-Danlos syndrome, musculocontractural type 1 Spondyloepiphyseal dysplasia with congenital joint dislocations Macular dystrophy, corneal, 1 Macular dystrophy, corneal, 2 Peeling skin syndrome 3 Temtamy preaxial brachydactyly syndrome Cocoon syndrome Deafness, autosomal recessive 48 Usher syndrome type IJ Lipodystrophy, familial partial, type 5 Bare lymphocyte syndrome, type II Wolfram syndrome 2 Atrial septal defect 8 Ventricular septal defect 2 Primary cervical dystonia, adult-onset Filippi syndrome Pontocerebellar hypoplasia, type 3 Cold-induced sweating syndrome 2 Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior Epilepsy, idiopathic, generalized, susceptibility to, 11 Epilepsy, juvenile, absence, suscepibility to, 2 Epilepsy, juvenile myoclonic, susceptibility to, 8 Leukoencephalopathy with ataxia Dent disease 1 Hypophosphatemic rickets, X-linked recessive Nephrolithiasis, type I Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4 Bartter syndrome, type 4, digenic Bartter syndrome, type 3 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Deafness, autosomal recessive 29 Hypomagnesemia 3, renal Hypomagnesemia 5, renal, with ocular involvement Candidiasis, familial, 4 Mental retardation, X-linked, syndromic 32 Deafness, autosomal recessive 103 Congenital short bowel syndrome Ceroid lipofuscinosis, neuronal, 3 Ceroid lipofuscinosis, neuronal, 5 Ceroid lipofuscinosis, neuronal, 6 Ceroid lipofuscinosis, neuronal, 8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant Pontocerebellar hypoplasia type 10 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) Deafness, autosomal recessive 81 Retinitis pigmentosa 61 Usher sydnrome, type 3A Myotonic dystrophy 2 Retinitis pigmentosa 49 Achromatopsia 2 Leber congenital amaurosis Retinitis pigmentosa 45 Achromatopsia 3 Macular degeneration, juvenile Hypomagnesemia 6 ,renal Jalili syndrome Myopathy, congenital, Compton-North Epilepsy, familial adult myoclonic 5 Lethal congenital contracture syndrome 7 Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Neurodegeneration with brain iron accumulation 6 Deafness, autosomal dominant 9 Congenital disorder of glycosylation, type IIg Congenital disorder of glycosylation, type IIj Congenital disorder of glycosylation, type IIi Congenital disorder of glycosylation, type Iil Congenital disorder of glycosylation, type IIe Congenital disorder of glycosylation, type IIh Metaphyseal chondrodysplasia, Schmid type Stickler syndrome, type II Fibrochondrogenesis Marshall syndrome Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia Stickler syndrome, type III Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2 Myasthenic syndrome, congenital, 19 Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type Knobloch syndrome 1 Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type VII, autosomal dominant Ehlers-Danlos syndrome, cardiac valvular form Fibrosis of extraocular muscles, congenital 5 Steel syndrome Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary Ehlers-Danlos syndrome, type IV Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly Hemorrhage, intracerebral, susceptibility to Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive Mental retardation, autosomal dominant 34 Alport syndrome, X-linked Deafness, X-linked, with cochlear malformation Ehlers-Danlos syndrome, type II Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Myosclerosis, congenital Epilepsy, progressive myoclonic, autosomal recessive Dystonia 27 Epidermolysis bullosa dystrophica, autosomal dominant Epidermolysis bullosa dystrophica, autosomal recessive Epidermolysis bullosa dystrophica inversia Epidermolysis bullosa pruriginosa Nail disorder, nonsyndromic congenital, 8 Epidermolysis bullosa dystrophica, Bart type Epidermolysis bullosa, pretibial Transient bullous dermolysis of the newborn Corneal dystrophy polymorphous posterior, 2 Corneal dystrophy, Fuchs endothelial, 1 Stickler syndrome, type IV Stickler syndrome, Type V Epiphyseal dysplasia, multiple, 3 3MC syndrome 2 Myasthenic syndrome, congenital 5 Pseudoachondroplasia Multiple ephiphyseal dysplasia Medication response, association with Autoimmune interstitial lung, joint, and kidney disease Coenzyme Q10 deficiency 1 Coenzyme Q10 deficiency 7 Coenzyme Q10 deficiency, primary 6 Coenzyme Q10 deficiency, primary 8 Coenzyme Q10 deficiency 5 Preeclampsia/eclampsia 5 Immunodeficiency 8 Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Charcot-Marie-Tooth disease, recessive intermediate D Linear skin defects with multiple congenital anomalies 2 Aceruloplasminemia Hypoceruloplasminemia Febrile seizures, familial, 11 Epilepsy, familial temporal lobe, 5 Carboxypeptidase N deficiency Coproporphyria Harderoporphyria Carbamoylphosphate synthetase I deficiency Carnitine palmitoyltransferase deficiency I Spastic paraplegia 73, autosomal dominant Carnitine palmitoyltransferase II deficiency Blood group, Knops system Common variable immune deficiency, 7 Mental retardation, autosomal recessive 34 Leber congenital amaurosis 8 Retinitis pigmentosa 12, autosomal recessive Pigmented paravenous chorioretinal atrophy Focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease Mental retardation, autosomal recessive 2 Osteogenesis imperfecta, type XVI Rubinstein-Taybi syndrome Atrioventricular septal defect, partial, with or without heterotaxy Short stature with microcephaly and distinctive facies Crisponi syndrome Cold-induced sweating syndrome, type 1 Osteogenesis imperfecta, type VII Leber congenital amaurosis 7 Cone-rod dystrophy 2 Cataract 9, multiple types Myopathy, myofibrillar, 2 Cardiomyopathy, dilated, 1II Congenital cataract and cardiomyopathy Cataract, myofibrillar myopathy and cardiomyopathy Cataract 10, multiple types Cataract 42 Cataract 23 Cataract, congenital nuclear, autosomal recessive 3 Cataract, pulvurent Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like Cataract, congenital, cerulean type, 2 Cataract, congenital nuclear, autosomal recessive, 2 Cataract 39, multiple types Cataract 2, multiple types Cataract 4, multiple types Cataract, progressive polymorphic cortical Deafness, autosomal dominant 40 Leukoencephalopathy, diffuse hereditary, with spheroids Surfactant metabolism dysfunction, pulmonary, 4 Surfactant metabolism dysfunction, pulmonary, 5 Neutrophilia, hereditary Advanced sleep-phase syndrome, familial, 2 Jeune Asphyxiating Thoracic Dystrophy Joubert syndrome 21 Cardiomyopathy, familial hypertrophic 12 Cardiomyopathy, dilated, 1M Peeling skin syndrome 4 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) Cerebroretinal microangiopathy with calcifications and cysts Mental retardation, autosomal dominant, 21 Congenital cataracts, facial dysmorphism, and neuropathy Cystathioninuria Autoimmune lymphoproliferative syndrome, type V Hereditary diffuse gastric cancer, familial Arrhythmogenic right ventricular dysplasia, familial, 13 Mental retardation, autosomal dominant 19 Cystinosis Immunodeficiency 24 Galactosialidosis Haim-Munk syndrome Papillon-Lefevre syndrome Periodontitis 1, juvenile Ceroid lipofuscinosis, neuronal, 10 Neuronal ceroid lipofuscinosis 13 Pycnodysostosis Megaloblastic anemia-1, Finnish type Pseudohypoaldosteronism, type IIE Mental retardation, X-linked, syndromic 15 (Cabezas type) Three M syndrome 1 Yakut short stature syndrome Spinocerebellar ataxia, autosomal recessive 17 Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome 46, XY disorder of sex development Methemoglobinemia, type IV Methemoglobinemia due to methemoglobin reductase deficiency Chronic granulomatous disease, autosomal, due to deficiency of CYBA Chronic granulomatous disease, X-linked Immunodeficiency 34 Mitochondrial complex III deficiency, nuclear type Thrombocytopenia 4 Spiegler-Brooke syndrome Trichoepithelioma, multiple familial, 1 Cylindromatosis, familial Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Glucocorticoid-remediable aldosteronism Corticosterone methyloxidase type I deficiency Corticosterone methyloxidase type II deficiency Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency Aromatase deficiency CYP1A2-related drug metabolism Glaucoma, primary open angle, adult-onset Peters anomaly Glaucoma 3A, primary congenital Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 1,25(OH)(2)D-24-hydroxylase deficiency Focal facial dermal dysplasia 4 Cerebrotendinous xanthomatosis Vitamin D-dependent rickets, type 1A CYP2A6-related drug metabolism Efavirenz, poor metabolism of Drug metabolism, CYP2C19-related Rhabdomyolysis, cerivastatin-induced Drug metabolism, CYP2C9-related Drug metabolism, CYP2CD6-related Vitamin D hydroxylation deficient rickets, type 1B Spastic paraplegia 56, autosomal recessive Drug metabolism, CYP3A4-related Drug metabolism, CYP3A5-related Warfarin metabolism Ichthyosis, congenital, autosomal recessive 5 Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa, autosomal recessive Bile acid synthesis defect, congenital, 3 Myoglobinuria, recurrent Leber hereditary optic neuropathy Cardiomyopathy, infantile histiocytoid D-2-hydroxyglutaric aciduria 1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy, type C, 9 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dopamine beta-hydroxylase deficiency Maple syrup urine disease, type II Woodhouse-Sakati syndrome Giant axonal neuropathy 2, autosomal dominant Mirror movements 1 Deafness, autosomal recessive 66 Mitral valve prolapse 2 Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation Corneal dystrophy, congenital stromal Al-Raqad syndrome Neuropathy, distal hereditary motor, type VIIB Perry syndrome Lissencephaly, X-linked, 1 Subcortical laminal heteropia, X-linked Pentosuria Xeroderma pigmentosum, group E Aromatic l-amino acid decarboxylase deficiency Spastic paraplegia 54 Congenital disorder of glycosylation, type Ir Spondylometaepiphyseal dysplasia, short limb-hand type Warsaw breakage syndrome Mental retardation, X-linked 102 Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to Singleton-Merten syndrome 2 Orofaciodigital syndrome V Mental retardation, autosomal dominant 24 2,4-dienoyl-CoA reductase deficiency Epilepsy, familial focal, with variable foci Myopathy, myofibrillar 1 Cardiomyopathy, dilated, 1I Deafness, autosomal dominant 5 Deafness, autosomal recessive 59 Diarrhea 7 Nephrotic syndrome, type 7 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Desmosterolosis Smith-Lemli-Opitz syndrome Retinitis pigmentosa 59 Megaloblastic anemia due to dihydrofolate reductase deficiency 46,XY partial gonadal dysgenesis, with minifascicular neuropathy 46,XY sex reversal 7 Postaxial acrofacial dysostosis (Miller syndrome) Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria Deafness, autosomal dominant 64 Deafness, autosomal dominant 1 Premature ovarian failure 2A DICER1 syndrome Mental retardation, FRA12A type Perlman syndrome Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome Pyruvate dehydrogenase E2 deficiency Dihydrolipoyl dehydrogenase deficiency Mental retardation, X-linked 90 Holoprosencephaly Spondylocostal dysostosis 1, autosomal recessive Adams-Oliver syndrome 6 Trichodontoosseous syndrome Amelogenesis imperfecta, type IV Orofacial cleft 15 Split-hand/foot malformation 1 with sensorineural hearing loss Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B Dimethylglycine dehydrogenase deficiency Hypophosphatemic rickets, autosomal recessive 1 Myotonic dystrophy 1 Polyendocrine-polyneuropathy syndrome Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6 Seckel syndrome 8 Ciliary dyskinesia, primary, 13 Ciliary dyskinesia, primary, 10 Ciliary dyskinesia, primary, 18 Spermatogenic failure Ciliary dyskinesia, primary, 7 Ciliary dyskinesia, primary, 3, with or without situs inversus Ciliary dyskinesia, primary, 1 Ciliary dyskinesia, primary, 9 Spinal muscular atrophy, distal, autosomal recessive, 5 Charcot-Marie-Tooth disease, axonal, type 2T Muscular dystrophy, limb-girdle, type 1E Parkinson disease 21 3-methylglutaconic aciduria, type V Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus Ceroid lipofuscinosis, neuronal 4, Parry type Kufs disease, autosomal dominant Juvenile Parkinsonism, autosomal recessive Ciliary dyskinesia, primary, 16 Mirror movements 3 Macular dystrophy, North Carolina type Systemic lupus erythematosus 16 Epileptic encephalopathy, early infantile 31 Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission Charcot-Marie-Tooth disease, dominant intermediate B Charcot-Marie-Tooth disease, axonal, type 2M Myopathy, centronuclear Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive Neuropathy, hereditary sensory, type IE Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Tatton-Brown-Rahman syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Immunodeficiency 40 Adams-Oliver syndrome 2 Epilepitic encephalopathy, early infantile, 23 Hyper-IgE recurrent infection syndrome, autosomal recessive Myasthenic syndrome, congenital 10 Congenital disorder of glycosylation, type Im Myasthenic syndrome, congenital, 13 Congenital disorder of glycosylation, type Ij (AR) Developmental delay with short stature, dysmorphic features, and sparse hair Congenital disorder of glycosylation, type Ie Congenital disorder of glycosylation, type Iu Congenital disorder of glycosylation, type Io Ventricular fibrillation, paroxysmal familial, 2 Spermatogenic failure 9 Globozoospermia 5-fluorouracil toxicity Dihydropyriminidase deficiency Cone-rod dystrophy 21 Myoclonic dystonia Arrhythmogenic right ventricular dysplasia, familial, 11 Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair Hypotrichosis and recurrent skin vesicles Ehlers-Danlos syndrome, musculocontractural type 2 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome) Cardiomyopathy, dilated, 1BB Arrhythmogenic right ventricular dysplasia, familial, 10 Hypotrichosis 6 Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II Neuropathy, hereditary sensory and autonomic, type VI Congenital anomalies of the kidney and urinary tract 1 Left ventricular noncompaction 1 Hermansky-Pudlak syndrome 7 Thyroid dyshormonogenesis 6 Thyroid dyshormonogenesis 5 Hypogonadotropic hypogonadism 19, with or without anosmia Facioscapulohumeral muscular dystrophy, type 2 Robinow syndrome, autosomal dominant 2 Robinow syndrome, autosomal dominant 3 Dyggve-Melchior-Clausen disease Smith-McCort dysplasia 1 Charcot-Marie-Tooth disease, axonal, type 2O Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity, autosomal dominant Short-rib thoracic dysplasia 3 with or without polydactyly Mental retardation, autosomal dominant 7 Abdominal obesity-metabolic syndrome 3 Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle, type 2B Myopathy, distal, with anterior tibial onset Ciliary dyskinesia, primary 25 Combined oxidative phosphorylation deficiency 12 Chondrodysplasia punctata 2, X-linked dominant Male EBP disorder with neurologic defects (MEND) Hirschsprung disease, cardiac defects, and autonomic dysfunction Arthrogryposis, distal, type 5D Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Lipoid proteinosis Ectodermal dysplasia, anhidrotic, X-linked Ectodermal dysplasia, hypohidrotic, X-linked 1 Tooth agenesis, selective, X-linked, 1 (XL) Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Hair morphology 1 Ectodermal dysplasia, anhidrotic, autosomal recessive Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive Mental retardation, autosomal recessive 50 Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3 Waardenburg syndrome, type 4B Hirschsprung disease, susceptibility to, 4 Mandibulofacial dysostosis with alopecia Waardenburg syndrome type 4A ABCD syndrome Hirschsprung disease, susceptibility to, 2 Epileptic encephalopathy, early infantile, 33 Mental retardation, autosomal dominant 28 Doyne honeycomb degeneration of retina Malattia leventinese Cutis laxa, autosomal recessive type IB Epilepsy, myoclonic juvenile Epilepsy, juvenile absence, susceptibility to, 1 Epilepsy, severe intractable Craniofrontonasal dysplasia Mandibulofacial dysostosis, Guion-Almeida type Esophageal atresia, syndromic Hypomagnesemia 4, renal Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2 Erythrocytosis, familial, 3 Charcot-Marie-Tooth disease, demyelinating, type 1D Neuropathy, congenital hypomyelinating, 1 Dejerine-Sottas disease Fanconi renotubular syndrome 3 Kleefstra syndrome Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome Pulmonary venoocclusive disease 2 Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy Richieri-Costa-Pereira Syndrome Parkinson disease 18 Macular dystrophy with central cone involvement Combined oxidative phosphorylation deficiency 17 Thyroid cancer, nonmedullary 4 Neutropenia, severe congenital 1, autosomal dominant Neutropenia, cyclic Deafness, autosomal recessive 88 Cutis laxa, autosomal dominant 1 Supravalvular aortic stenosis Icthyosis, spastic quadriplegia, and mental retardation Spinocerebellar ataxia 34 Startgardt disease 3 Spinocerebellar ataxia 39 Cerebellar atrophy, visual impairment, and psychomotor retardation Emery-Dreifuss muscular dystrophy 1, X-linked Bowen-Conradi syndrome Nephrotic syndrome, type 10 Amelogenesis imperfecta, type IB Amelogenesis imperfecta, type IC Hereditary hemorrhagic telangiectasia, type 1 Juvenile polyposis syndrome Glycogen storage disease XIII Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1 Spastic paraplegia 64 Adams-Oliver syndrome 4 Rubinstein-Taybi syndrome 2 Erthyrocytosis, familial 4 Ellipsocytosis 1 Mental retardation, autosomal dominant 11 Spherocytosis, type 5 Colorectal cancer, hereditary nonpolyposis, type 8 Diarrhea 5, with tufting enteropathy, congenital Vici syndrome Cataract 6, multiple types Epilepsy, progressive myoclonic 2A (Lafora) Erythrocytosis, familial, 1 Deafness, autosomal recessive 102 Eosinophil peroxidase deficiency Lethal congenital contractural syndrome 2 Amyotrophic lateral sclerosis 19 Cerebrooculofacioskeletal syndrome 4 Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D Xeroderma pigmentosum, complementation group B Trichothiodystrophy 2, photosensitive Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD) Bone marrow failure syndrome 2 UV-sensitive syndrome 2 Cockayne syndrome type A Craniosynostosis 4 Spastic paraplegia 62, autosomal recessive Spastic paraplegia 18, autosomal recessive Blood group, Scianna system Blood group, Radin Periventricular nodular heterotopia 6 SC phocomelia syndrome Roberts syndrome Deafness, autosomal dominant, without vestibular involvement Deafness, autosomal recessive 36 Estrogen resistance Deafness, autosomal recessive 35 Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II Ethylmalonic encephalopathy Thrombocytopenia 5 Ellis-van Creveld syndrome Weyers acrofacial dysostosis Weyers acrodental dysostosis Pontocerebellar hypoplasia type 1B Pontocerebellar hypoplasia, type 1C Epidermolysis bullosa, nonspecific, autosomal recessive Exostoses, multiple, type 1 Exostoses, multiple, type 2 Branchiootic syndrome 1 Branchiootorenal syndrome 1 Otofaciocervical syndrome 1 Cardiomyopathy, dilated, 1J Retitinis pigmentosa 25 Weaver syndrome Factor X deficiency Factor XI deficiency Angioedema, hereditary, type III Factor XIIIA deficiency Factor XIIIB deficiency Prothrombin deficiency, congenital Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Factor V deficiency Factor VII deficiency Hemophilia A Hemophilia B Thrombophilia, X-linked, due to factor IX defect Warfarin sensitivity Spastic paraplegia 35, autosomal recessive Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations Tyrosinemia, type I Kenny-Caffey syndrome, type 2 Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis Leukodystrophy, hypomyelinating, 5 Neuropathy, hereditary sensory and autonomic, type IIB Retitinis pigmentosa 28 Amelogenesis imperfecta, type IG (Enamel-renal syndrome) Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome) STAR syndrome Toe syndactyly, telecanthus, and anogenital and renal malformations Deafness, autosomal recessive 104 Amelogenesis imperfecta, type 3 Interstitial nephritis, karyomegalic Fanconi anemia, complementation group A Fanconi anemia,complementation group B Fanconi anemia, complementation group C Fanconi anemia, complementation group D2 Fanconi anemia, complementation group E Fanconia anemia, complementation group F Fanconi anemia type G Fanconi anemia, complementation group I Fanconi anemia type L Fanconi anemia type M Peroxisomal fatty acyl-CoA reductase 1 disorder Combined oxidative phosphorylation deficiency 14 Autoimmune lymphoproliferative syndrome, type IA Autoimmune lymphoproliferative syndrome, type IB Hennekam lymphangiectasia-lymphedema syndrome 2 Synpolydactyly 2 Macular degeneration, age-related 3 Cutis laxa, autosomal dominant 2 Cutis laxa, autosomal recessive, type IA Marfan syndrome MASS syndrome Shprintzen-Goldberg syndrome Marfan lipodystrophy syndrome Congenital contractural arachnodactyly (Beals syndrome) Fructose-1,6-bisphosphatase deficiency Mitochondrial DNA depletion syndrome 13 Mental retardation 45, autosomal recessive Neuronopathy, distal hereditary motor, type IID Parkinson disease 15, autosomal recessive Immunodeficiency 20 Epilepsy, myoclonic, adult familial, 2 Immunodeficiency due to Ficolin 3 deficiency Porokeratosis 9 Kindler syndrome Leukocyte adhesion deficiency, type III Hypogonadotropic hypogonadism 22 with or without anosmia Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital Familial visceral amyloidosis Aarskog-Scott syndrome Mental retardation, X-linked syndromic 16 Charcot-Marie-Tooth disease, type 4H Lacrimoauriculodentodigital syndrome Spinocerebellar ataxia 27 Metacarpal 4-5 fusion Hypogonadotropic hypogonadism 20, with or without anosmia Renal hypodysplasia/aplasia 2 Hypophosphatemic rickets, autosomal dominant Tumoral calcinosis, hyperphosphatemic Deafness, congenital with inner ear agenesis, microtia, and microdontia Trichomegaly Hypogonadotropic hypogonadism 6, with or without anosmia Multiple synostoses syndrome 3 Hypogonadotropic hypogonadism 2 with or without anosmia Trigonocephaly 1 Jackson-Weiss syndrome Pfeiffer syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome Crouzon syndrome with acanthosis nigricans Lacrimoauriculodentodigital syndrome (AD) Muenke syndrome Hypodysfibrinogenemia Hereditary leiomyomatosis and renal cell cancer Reducing bod myopathy, X-linked 1A, with infantile or early childhood onset Reducing bod myopathy, X-linked 1B, with late childhood or adult onset Emery-Dreifuss muscular dystrophy 6, X-linked Myopathy, X-linked, with postural muscle atrophy Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome Premature ovarian failure 6 Osteogenesis imperfecta, type XI Bruck syndrome 1 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 Cardiomyopathy, dilated, 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 Birt-Hogg-Dube syndrome Pneumothorax, primary spontaneous Icthyosis vulgaris Thrombocytopenia, Paris-Trousseau type Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, Ehlers-Danlos variant Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III Myopathy, distal, 4 Myopathy, myofibrillar, 5 Hypogonadotropic hypogonadism 21, with or without anosmia Lymphedema, hereditary I (Milory disease) Ataxia, posterior column, with retinitis pigmentosa Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Mental retardation, autosomal recessive, 47 Trimethylaminuria Glomerulopathy with fibronectin deposits 2 Cerebral folate deficiency Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1 Lymphedema-distichiasis syndrome Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism Aphakia, congenital primary Anterior segment mesenchymal dysgenesis Alveolar capillary dysplasia with misalignment of pulmonary veins Rett syndrome, congenital variant Congenital heart malformations Enlarged vestibular aqueduct Pendred syndrome Blepharophimosis, epicanthus inversus, and ptosis, type 1 Blepharophimosis, epicanthus inversus, and ptosis, type 2 Premature ovarian failure 3 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Mental retardation with language impairment and autistic features Speech-language disorder 1 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) Mitochondrial complex I deficiency Fraser syndrome Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome) Nystagmus, infantile periodic alternating, X-linked Retinitis pigmentosa 30 Hypogonadotropic hypogonadism 24 without anosmia Facioscapulohumeral muscular dystrophy 1A Ovarian hyperstimulation syndrome Ovarian dysgenesis 1 Glutamate formiminotransferase deficiency Hemochromatosis, type 5 L-ferritin deficiency Neurodegeneration with brain iron accumulation 3 Hyperferritinemia-cataract syndrome Growth retardation, developmental delay, and facial dysmorphism Mental retardation, X-linked 9 Fucosidosis Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia Essential tremor Bombay phenotype Para-Bombay phenotype H-deficient blood group Reunion variant Blood group, Lewis Fucosyltransferase 6 deficiency Neural tube defects, susceptibility to Friedreich ataxia Hypomagnesemia 2, renal Cataract, autosomal recessive congenital 2 Exudative vitreoretinopathy 1 Retinopathy of prematurity Nail disorder, nonsyndromic noncongenital 10 Glycogen storage disease Ia Neutropenia, severe congenital, 4, autosomal recessive Dursun syndrome Glucose-6-phosphate dehydrogenase deficiency Glycogen storage disease II Epilepsy, juvenile myoclonic, susceptibility to, 5 Epilepsy, childhood absence, susceptibility to, 4 Epileptic encephalopathy, early infantile 19 Epilepsy, childhood absence, susceptibility to, 5 Dravet syndrome Generalized epilepsy with febrile seizures plus, type 3 Familial febrile seizures 8 Epilepsy, childhood absence, susceptibility to, 2 Cerebral palsy, spastic quadriplegic, 1 Epilepsy, familial temporal lobe, 8 Krabbe disease Galactose epimerase deficiency Galactokinase deficiency Mucopolysaccharidosis IVA (Morquio syndrome A) Colorectal cancer, susceptibility to, 1 Galactosemia Guanidinoacetate methyltransferase deficiency Giant axonal neuropathy 1, autosomal recessive Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V Holoprosencephaly 4 Ciliary dyskinesia, primary, 33 Thrombocytopenia with beta-thalessemia, X-linked Anemia, X-linked, without thrombocytopenia Dyserythropoietic anemia with thrombocytopenia Immunodeficiency 21 Emberger syndrome Myelodysplastic syndrome Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia Hypoparathyroidism, sensorineural deafness, and renal dysplasia Atrioventricular septal defect 4 Ventricular septal defect 1 Atrial septal defect 2 Testicular anomalies with or without congenital heart disease Tetralogy of Fallot Heart defects, congenital, and other congenital anomalies Cardiomyopathy, dilated, 2B Mental retardation, autosomal dominant, 18 Cerebral creatine deficiency syndrome 3 Gaucher disease Cerebellar ataxia with spasticity, autosomal recessive Glycogen storage disease IV Glutaric aciduria, type I Hyperphenylalaninemia, BH4-deficient, B Autosomal Recessive Dopa-Responsive Dystonia with or without Hyperphenylalaninemia GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Diabetes mellitus, permanent neonatal Hyperinsulinemic hypoglycemia, familial 3 Gamma-glutamylcysteine synthetase deficiency Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, axonal, type 2K Charcot-Marie-Tooth disease, type 4A Transposition of the great arteries, dextro-looped 3 Hereditary hemorrhagic telangiectasia, type 5 Microphthalmia, isolated 7 Microphthalmia, isolated, with coloboma 6 Klippel-Feil syndrome 3, autosomal dominant Coloboma, ocular Acromesomelic dysplasia, Hunter-Thompson type Fibular hypoplasia and complex brachydactyly Multiple synostoses syndrome 2 Chondrodysplasia, Grebe type Symphalangism, proximal 1B Brachydactyly, type A1 Brachydactyly, type A1, C Brachydactyly, type C Microphthalmia, isolated 4 Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Mental retardation, X-linked 41 Central hypoventilation syndrome Hirschsprung disease, susceptibility to, 3 Alexander disease Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Neutropenia, severe congenital, 2 autosomal dominant Neutropenia, nonimmune chronic idiopathic, of adults Bleeding disorder, platelet-type, 17 Combined oxidative phosphorylation deficiency 1 Myasthenic syndrome, congenital 12 Vitamin K-dependent clotting factors, combined deficiency of, 1 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Isolated growth hormone deficiency, isolated, type IA Isolated growth hormone deficiency, type 1B Growth hormone deficiency, isolated, type II Kowarski syndrome Growth hormone insensitivity syndrome (Laron syndrome) Short stature Intrinsic factor deficiency Parkinson disease, autosomal dominant, 11 Deafness, autosomal recessive 15 Oculodentodigital dysplasia, autosomal dominant Cataract 14, multiple types Atrial fibrillation, familial 11 Progressive familial heart block, type I Atrial standstill, digenic Cataract 1, multiple types Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 Deafness, autosomal recessive 1A Deafness, digenic Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3A Bart-Pumphrey syndrome Keratoderma, palmoplantar, with deafness Vohwinkel syndrome Keratitis-icthyosis-deafness syndrome Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness digenic Erythrokeratodermia variabilis et progressiva Erythrokeratodermia variabilis with erythema gyratum repens Deafness, autosomal recessive 1B Lymphedema, hereditary, IC Spastic paraplegia 44, autosomal recessive Leukodystrophy, hypomyelinating, 2 Glycerol kinase deficiency Fabry disease Fabry disease, cardiac variant Mucopolysaccharidosis type IVB (Morquio syndrome B) GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III Arthrogryposis, lethal, with anterior horn cell disease Lethal congenital contracture syndrome 1 Culler-Jones syndrome Acrocallosal syndrome Pallister-Hall syndrome Grieg cephalopolysndactyly syndrome Postaxial polydactyly type A1 Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B Nephronophthisis 7 Diabetes mellitus, neonatal, with congenital hypothyroidism Glomuvenous malformations Hyperekplexia, hereditary Hyperekplexia 2 Anemia, sideroblastic 3, pyridoxine-refractory Hyperinsulinemic hypoglycemia, familial Hyperammonemia-hyperinsulinism Glutamine deficiency, congenital D-glyceric aciduria GM2-gangliosidosis, AB variant Meier-Gorlin syndrome 6 Alacrima, achalasia, and mental retardation syndrome Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14 Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14 Hypocalcemia 2, autosomal dominant Hypocalciuric hypercalcemia, autosomal dominant Auriculocondylar syndrome 1 Primary torsion dystonia Epileptic encephalopathy, early infantile, 17 Pseudohypoparathyroidism, type IA Pseudohypoparathyroidism, type IB Pseudohypoparathyroidism, type IC Progressive osseous heteroplasia McCune-Albright syndrome Night blindness, congenital stationary, autosomal dominant 3 Night blindness, congenital stationary, autosomal recessive, 1G Achromatopsia 4 Charcot-Marie-Tooth disease, dominant intermediate F Sialuria, French type Nonaka myopathy Inclusion body myopathy, autosomal recessive Glycine N-methyltransferase deficiency Rhizomelic chondrodysplasia punctata, rhizomelic, type 2 Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy) Mucolipidosis II alpha/beta (I-cell disease) Mucolipidosis III gamma Hypogonadotropic hypogonadism 12 with or without anosmia Hypogonadotropic hypogonadism 7 with or without anosmia Hypogonadotropic hypogonadism 23 with or without anosmia Mucopolysaccharidosis IIID (Sanfilippo syndrome D) Geroderma osteodysplasticum Epilepsy, progessive myoclonic 6 Bernard-Soulier syndrome, type A2 Bernard-Soulier syndrome, type A1 Pseudo-von Willebrand disease Bernard-Soulier syndrome Giant platelet disorder, isolated Bleeding disorder, platelet-type, 11 Simpson-Golabi-Behmel syndrome, type 1 Omodysplasia 1 Hypertriglyceridemia, transient infantile Brugada syndrome 2 Hyperekplexia, autosomal dominant Molybdenum cofactor deficiency, type C Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency Hyperlipoproteinemia, type ID Pituitary adenoma, growth hormone secreting, 2 Nystagmus 6, congenital, X-linked Ocular albinism, type I Night blindness, congenital stationary, type 1E Chorea, childhood-onset, with psychomotor retardation Chudley-McCullough syndrome Deafness, autosomal recessive 82 Mental retardation, autosomal recessive 49 Sedaghatian-type spondylometaphyseal dysplasia Ectodermal dysplasia/short stature syndrome Hyperoxaluria, primary, type II Mental retardation, X-linked 94 Spinocerebellar ataxia, autosomal recessive 18 Mental retardation, autosomal recessive 6 Response to antidepressant treatment with citalopram Mental retardation, autosomal dominant 8 Epilepsy, focal, with speech disorder and with or without mental retardation Mental retardation, autosomal dominant 6 Epileptic encephalopathy, early infantile 27 Oguchi disease 2 Spinocerebellar ataxia, autosomal recessive 13 Night blindness, congenital stationary, type 1B Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related Neuronal ceroid lipofuscinosis 11 Deafness, autosomal recessive 25 Deafness, autosomal recessive 101 Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS) Amyloidosis, Finnish type Glutathione synthetase deficiency Trichothiodystrophy 6, nonphotosensitive Trichothiodystrophy 3, photosensitive Combined oxidative phosphorylation deficiency 23 Cone dystrophy 3/Cone-rod dystrophy 14 Retinitis pigmentosa 48 Moyamoya disease 6 with achalasia Diarrhea 6 Meconium ileus Cone-rod dystrophy 6 Leber congenital amaurosis, type 1 Cone-Rod dystrophy, autosomal recessive Mucopolysaccharidosis type VII Glycogen storage disease XV Blood group, MN locus Blood group, Erik Blood group, Ss Blood group, Gerbich Blood group, Webb Blood group, Duch Glycogen storage disease, type 0, muscle Glycogen storage disease, type 0, liver Wilms tumor 2 Cortisone reductase deficiency Thyroid cancer, nonmedullary 5 Spastic paraplegia and psychomotor retardation with or without seizures 3-hydroxyacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Trifunctional protein deficiency Histidinemia Hemochromatosis, type 2B Usher syndrome, type 3B Perrault syndrome 2 Neutropenia, severe congenital, 3 Alpha-thalassemia (Hemoglobin Bart syndrome) Alpha-thalassemia (Hemoglobin H disease) Beta-thalassemia Sickle cell disease Thalassemia-beta, dominant inclusion body Other Thalassemias/Hemoglobinopathies Hereditary persistence of fetal hemoglobin Cyanosis, transient neonatal Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome) Combined methylmalonic acidemia and hyperhomocysteinemia Epileptic encephalopathy, early infantile, 24 Brugada syndrome 8 Sick sinus syndrome 2 Narcolepsy 1 Brachydacytly-mental retardation syndrome Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Cornelia de Lange syndrome 3 Tourette's syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 4 Mucopolysaccharidosis type IX Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts 2A Skin/hair/eye pigmentation 1 Mental retardation, autosomal recessive 38 Spondylocostal dysostosis 4, autosomal recessive Pituitary hormone deficiency, combined Septooptic dysplasia Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency Sandhoff disease Hemochromatosis Hemochromatosis, type 2A Premature ovarian failure 9 Alkaptonuria Deafness, autosomal recessive 39 Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C) Retinitis pigmentosa 73 3-hydroxyisobutryl-CoA hydrolase deficiency Hemolytic anemia, nonspherocytic, due to hexokinase deficiency Drug-induced toxicity, susceptibility to Holocarboxylase synthetase deficiency Hydroxymethylbilane synthase deficiency Porphyria, acute intermittent Macular degeneration, age-related, 1 Microphthalmia, syndromic 13 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Statins, efficacy of 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency Heme oxygenase 1 deficiency Oculoauricular syndrome Renal cell carcinoma, nonpapillary clear cell Liver adenomatosis Maturity onset diabetes of the young, type III Renal cell carcinoma, nonpapillary chromophobe Congenital hyperinsulinism, diazoxide-responsive Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Maturity onset diabetes of the young, 1 Mental retardation, autosomal recessive 51 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Limb-girdle muscular dystrophy, type 1G Au-Kline syndrome Hyperoxaluria, primary, type III Deafness, autosomal dominant 68 Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Hand-foot-genital syndrome Guttmacher syndrome Hand-foot-uterus syndrome Microtia, hearing impairment, and cleft palate Facial paresis, hereditary congenital, 3 Ectodermal dysplasia 9 Vertical talus, congenital Brachydactyly-syndactyly syndrome Brachydactyly, type D Brachydactyly, type E1 Syndactyly, type V Synopolydactyly, type I, Synopolydactyly, type II Synopolydactyly with clefting, autosomal recessive Anhaptoglobinemia Hypohaptoglobinemia Dystonia 2, torsion, autosomal recessive Tyrosinemia, type III Hawksinuria Hypertrophic osteoarthropathy, primary, autosomal recessive 1 Cranioosteoarthropathy Digital clubbing, isolated congenital Kelley-Seegmiller syndrome Lesch-Nyhan syndrome Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome 6 Ochoa syndrome Urofacial syndrome 1 Hypotrichosis 4 Atrichia with papular lesions Alopecia universalis congenita Costello syndrome Congenital myopathy with excess of muscle spindles Thrombophilia due to histidine-rich glycoprotein deficiency Hypogonadotropic hypogonadism 15, with or without anosmia Cortisone reductase deficiency 1 Cortisol 11-beta-ketoreductase deficiency 17-beta-hydroxysteroid dehydrogenase X deficiency Mental retardation, X-linked syndromic 10 17-Beta hydroxysteroid dehydrogenase III deficiency Perrault syndrome Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency Bile acid synthesis defect, congenital, 1 Cataract 5, multiple types Abacavir, susceptibility to toxicity with Anemia, sideroblastic 4 Neuropathy, distal hereditary motor, type IIB Charcot-Marie-Tooth disease, axonal, type 2F Neuronopathy, distal hereditary motor, type IIC Charcot-Marie-Tooth disease, axonal, type 2L Distal hereditary motor neuronopathy IIA Spastic paraplegia-13 Leukodystrophy, hypomyelinating, 4 Schwartz-Jampel syndrome, type 1 Periodic fever, menstrual cycle dependent Major depressive disorder, response to citalopram therapy in Clozapine, response to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) Huntington disease Mental retardation, X-linked syndromic, Turner type Hydrolethalus syndrome Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) Multiple mitochondrial dysfunctions syndrome 3 Spastic paraplegia 74, autosomal recessive Blood group, Landsteiner-Wiener Endocrine-cerebroosteodysplasia Immunodeficiency, common variable, 1 D-2-hydroxyglutaric aciduria 2 Retinitis pigmentosa, autosomal recessive, IDH3B-related Mucopolysaccharidosis type II Mucopolysaccharidosis type I Microcephaly, epilepsy, and diabetes syndrome Singleton-Merten syndrome 1 Osteogenesis imperfecta, type V Immunodeficiency 45 Immunodeficiency 27B Immunodeficiency 27A Immunodeficiency 28 Drug metabolism, IL28B-related Cranioectodermal dysplasia 1 Sensenbrenner syndrome Short-rib thoracic dysplasia 9 with or without polydactyly Retinitis pigmentosa 71 Short -rib thoracic dysplasia 10 with or without polydactyly Bardet Biedl syndrome 19 Cranioectodermal dysplasia 3 Short-rib thoracic dysplasia 2 with or without polydactyly Ciliopathy, IFT88-related Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Insulin-like growth factor I deficiency Insulin-like growth factor I, resistance to Growth restriction, severe, with distinctive facies Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Agammaglobulinemia 1 Spinal muscular atrophy, distal, autosomal recessive, 1 Charcot-Marie-Tooth disease, axonal, type 2S Immunoglobulin kappa light chain deficiency Agammaglobulinemia 2 Central hypothyroidism and testicular enlargement Lacrimal duct defect Acrocapitofemoral dysplasia Dysautonomia, familial Immunodeficiency 15 Immunodeficiency 33 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Immunodeficiency, isolated Incontinentia pigmenti Invasive pneumococcal disease, recurrent, isolated, 2 Immunodeficiency, common variable, 13 Graft vs. host disease Inflammatory bowel disease 28, autosomal recessive Inflammatory bowel disease 25, early onset, autosomal recessive Craniosynostosis and dental anomalies Immunodeficiency 29 Immunodeficiency 30 Candidiasis, familial, 6 Candiasis, familial, 5 Candiasis, familial, 9 Hypogonadotropic hypogonadism 18, with or without anosmia Mental retardation, X-linked 21/34 Osteomyelitis, sterile multifocal, with periostitis and pustulosis Immunodeficiency, common variable, 11 Immunodeficiency, primary, autosomal recessive, IL21R-related Interleukin 2 receptor, alpha, deficiency of Combined immunodeficiency, X-linked Amyloidois, primary localized cutaneous, 2 Pustular psoriasis, generalized Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive Deafness, autosomal recessive 42 Chondrodysplasia with joint dislocations, GPAPP type Retinitis pigmentosa 10 Leber congenital amaurosis 11 IMPDH2 enzyme activity, variation in Macular dystrophy, vitelliform, 4 Retinitis pigmentosa 56 Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E Joubert syndrome 1 Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome) Opsismodysplasia Cryptorchidism Hyperinsulinemic hypoglycemia, familial, 5 Rabson-Mendenhall syndrome Donohoe syndrome Nephronophthisis 2 Small intestinal carcinoid, hereditary Senior-Loken syndrome 5 Mental retardation, X-linked 1 IRAK4 deficiency Invasive pneumococcal disease, recurrent, isolated, 1 Herpes simplex encephalitis, susceptibility to, 7 Skin/hair/eye pigmentation, variation in, 8 Popliteal pterygium syndrome van der Woude syndrome 1 Orofacial cleft 6 Immunodeficiency 39 Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency) Immunodeficiency 32B (monocyte and dendritic cell deficiency) Multiple mitochondrial dysfunctions syndrome 4 Myopathy with lactic acidosis, hereditary Immunodeficiency 38, with basal ganglia calcification Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 Autoimmune disease, syndromic multisystem Glanzmann thrombasthenia Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa Familial gastric cancer Epidermolysis bullosa, junctional, with pyloric stenosis Muscular dystrophy, congenital, due to integrin alpha-7 deficiency Renal agenesis, bilateral Leukocyte adhesion deficiency, type I Bleeding disorder, platelet-type, 16, autosomal dominant Thrombocytopenia, neonatal alloimmune Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa simplex, Weber-Cockayne type Amelogenesis imperfecta, type IH Lymphoproliferative syndrome 1 Dementia, familial Danish Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Inosine triphosphatase deficiency Spinocerebellar ataxia 15 Spinocerebellar ataxia 29 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome) Isovaleric acidemia Thyroid dyshormonogenesis 4 Alagille syndrome Neutropenia, severe congenital, 6 Thrombocythemia 3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Cardiomyopathy, familial hypertrophic 17 Huntington disease-like 2 Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease Cerebral palsy, spastic quadriplegic, 2 Palmoplantar keratoderma and woolly hair Koolen-de Vries syndrom Charcot-Marie-Tooth disease, recessive intermediate B Mental retardation, autosomal dominant 32 Ohdo syndrome, SBBYS variant Genitopatellar syndrome Lissencephaly 6, with microcephaly Nemaline myopathy 6 Episodic ataxia, type 1/myokymia syndrome Epileptic encephalopathy, early infantile 32 Atrial fibrillation, familial, 7 Epilepsy, progressive myoclonic 7 Spinocerebellar ataxia 13 Brugada syndrome 9 Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 6 Atrial fibrillation, familial 4 Brugada syndrome 6 Temple-Baraitser syndrome Zimmermann-Laband syndrome 1 Long QT syndrome 2 Short QT syndrome 1 Bartter syndrome, antenatal, type 2 Enlarged vestibular aqueduct, digenic Pendred syndrome, digenic Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome) Hyperinsulinemic hypoglycemia, familial, 2 Diabetes mellitus, transient neonatal, 3 Diabetes, permanent neonatal, with Neurologic features Snowflake vitreoretinal degeneration Leber congenital amaurosis 16 Thyrotoxic periodic paralysis, susceptibility to Atrial fibrillation, familial 9 Short QT syndrome 3 Andersen syndrome Long QT syndrome 7 Long QT syndrome 13 Hyperaldosteronism, familial, type III Keppen-Lubinsky syndrome Migraine, with or without aura, susceptibility to, 13 Pulmonary artery hypertension, familial Birk-Barel mental retardation dysmorphism syndrome Generalized epilepsy and paroxysmal dyskinesia Dehydrated hereditary stomatocytosis 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome 2 Atrial fibrillation, familial 3 Epileptic encephalopathy, early infantile, 7 Benign familial neonatal seizures, 1 Myokymia Seizures, benign neonatal, 2 Deafness, autosomal dominant 2A Epilepsy, nocturnal frontal lobe, 5 Early infantile epileptic encephalopathy 14 Retinal cone dystrophy 3B Dystonia 26, myoclonic Epilepsy, progressive myoclonic 3, with or without intracellular inclusions Cleft palate, psychomotor retardation, and distinctive facial features Mental retardation, X-linked, syndromic, Claes-Jensen type Kabuki syndrome 2 Blood group, Kell system Cornea plana 2, autosomal recessive Hydatidiform mole, recurrent, 2 Fructosuria, essential Spastic paraplegia 8 Ritscher-Schinzel syndrome 1 (3C syndrome) Joubert syndrome 26 Joubert syndrome 23 Short rib thoracic dysplasia 14 with polydactyly Mental retardation, autosomal recessive 43 Mental retardation, X-linked 98 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Meckel syndrome 12 Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive Neuroblastoma, susceptibility to Pheochromocytoma Goldberg-Shprintzen megacolon syndrome Spastic ataxia 2, autosomal recessive Fibrosis of extraocular muscles, congenital 1 Fibrosis of extraocular muscles, congenital 3B Spondyloepimetaphyseal dysplasia with joint laxity, type 2 Cortical dysplasia, complex, with other brain malformations 3 Mental retardation, X-linked 100 Spastic paraplegia 10, autosomal dominant Cortical dysplasia, complex, with other brain malformations 2 Hydrolethalus syndrome 2 Joubert syndrome 12 Al-Gazali-Bakalinova syndrome Mental retardation, autosomal dominant 4 Hypogonadotropic hypogonadism 13 with or without anosmia Hypogonadotropic hypogonadism 8 with or without anosmia Gastrointestinal stromal tumor Congenital unilateral or asymmetric deafness Retinitis pigmentosa 69 Spastic paraplegia, optic atrophy, and neuropathy Anemia, dyserythropoietic congenital, type IV Blood group, Lutheran inhibitor Maturity-onset diabetes of the young, type VII Hodgkin lymphoma Spermatogenic failure 11 Pseudohypoaldosteronism, type IID Nemaline myopathy 8 Nemaline myopathy 9 Retinitis pigmentosa 42 Amelogenesis imperfecta, type IIA1 Prekallikrein deficiency Cowden syndrome 4 Wiedemann-Steiner syndrome Kabuki syndrome 1 High molecular weight kininogen deficiency Mental retardation, autosomal recessive 41 Cerebral cavernous malformations 1 Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis Erythroderma, ichthyosiform, congenital reticular Aaru disease Ichthyosis with confetti Meesmann corneal dystrophy White sponge nevus 2 Epidermolysis bullosa simplex, autosomal recessive Naegeli-Franceschetti-Jadassohn syndrome Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Dowling-Meara type Palmoplantar keratoderma, nonepidermolytic, focal Pachyonychia congenita 1 Steatocystoma multiplex Pachyonychia congenita 2 Ichthyosis bullosa of Siemens Ichthyosis exfoliativa Woolly hair, autosomal recessive 3 White sponge nevus 1 Epidermolysis bullosa simplex with migratory circinate erythema Epidermolysis bullosa simplex with mottled pigmentation Dowling-Degos disease 1 Pachyonychia congenita 3 Pachyonychia congenita 4 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse Hypotrichosis 13 Ectodermal dysplasia 7, hair/nail type Hypotrichosis 3 Woolly hair, autosomal dominant Pseudofolliculitis barbae Monilethrix Ectodermal dysplasia 4, hair-nail type Knuckle pads Hydroxykynureninuria Hydrocephalus due to congenital stenosis of aqueduct of Sylvius Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome CRASH syndrome Corpus callosum, partial agenesis of Spastic paraplegia-1 L-2-hydroxyglutaric aciduria Poretti-Boltshauser syndrome Muscular dystrophy, congenital merosin-deficient, 1A Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign Cardiomyopathy, dilated, 1JJ Lissencephaly 5 Pierson syndrome Nephrotic syndrome, type 5, with or without ocular abnormalities Amelogenesis imperfecta, type IA Cortical malformations, occipital Danon disease Immunodeficiency due to defect in MAPBP-interacting protein Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 Alazami syndrome Infantile liver failure syndrome 1 Perrault syndrome 4 Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Reynolds syndrome Pelger-Huet anomaly Greenberg/HEM skeletal dysplasia Leber congenital amaurosis 5 Lecithin:cholesterol acyltransferase deficiency (Norum disease) Fish-eye disease Immunodeficiency 22 Lactase deficiency, congenital Cardiomyopathy, dilated 1C, with or without ventricular noncompaction Myopathy, myofibrillar 4 Glycogen storage disease XI Lactate dehydrogenase B deficiency Hypercholesterolemia, familial, autosomal recessive Left-right axis malformations Buschke-Ollendorff syndrome Osteopoikilosis Leptin deficiency Leptin receptor deficiency Brachydactyly, type B2 Spondylocostal dysostosis, autosomal recessive 3 Epilepsy, familial temporal lobe, 1 Leydig cell hypoplasia type I Leydig cell hypoplasia type II Luteinizing hormone resistance, female Precocious puberty, male Deafness, autosomal recessive 67 Pituitary hormone deficiency, combined, 3 Pituitary hormone deficiency, combined, 4 Pyruvate dehydrogensae lipoic acid synthetase deficiency Stuve-Wiedemann syndrome LIG4 syndrome Cataract 19 Muscular dystrophy, limb-girdle, type 2W Mental retardation, autosomal recessive 27 Cholesterol ester storage disease Wolman disease Hepatic lipase deficiency Abdominal obesity-metabolic syndrome 4 Hypotrichosis 7 Hypertriglyceridemia, familial Ichthyosis, congenital, autosomal recessive 8 Lipoyltransferase 1 deficiency Charcot-Marie-Tooth disease, type 1C Combined factor V and VIII deficiency Mental retardation, autosomal recessive, 52 Acheiropody Syndactyly, type IV Laurin-Sandrow syndrome Triphalangeal thumb, type I Polydactyly, preaxial type II Triphalangeal thumb-polysyndactyly syndrome Tibial aplasia/hypoplasia Hypoplastic or aplastic tibia with polydactyly Methylmalonic aciduria and homocystinuria, cblF type Combined lipase deficiency Cardiomyopathy, dilated, 1A Heart-hand syndrome, Slovenian type Emery-Dreiffus muscular dystrophy, autosomal dominant Emery-Dreiffus muscular dystrophy 3, autosomal recessive Muscular dystrophy, congenital, LMNA-related Limb-girdle muscular dystrophy type 1B Malouf syndrome Lipodystrophy, familial partial, 2 (Dunnigan type) Leukodystrophy, adult-onset, autosomal dominant Liopdystrophy, partial, acquired Epilepsy, progressive myoclonic, 9 Nail-patella syndrome Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome Vohwinkel syndrome, variant form Deafness, autosomal recessive 77 Lipoprotein A deficiency, congenital Hypotrichosis 8 Myoglobinuria, acute, recurrent, autosomal recessive Majeed syndrome Lipoprotein lipase deficiency Combined hyperlipidemia, familial Hyperlipoproteinemia, type I Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile Retinal-dystrophy, early-onset severe Retinitis punctata albescens Common variable immunodeficiency 8, with autoimmunity Urofacial syndrome 2 Night blindness, congenital stationary (complete), 1F, autosomal recessive Donnai-Barrow syndrome Faciooculoacousticorenal syndrome Cenani-Lenz syndactyly syndrome Myasthenic syndrome, congenital 17 Sclerosteosis 2 van Buchem disease, type 2 Osteopetrosis, autosomal dominant 1 Osteosclerosis Hyperostosis, endosteal Exudative vitreoretinopathy 4 Osteoporosis-pseudoglioma syndrome Coronary artery disease, autosomal dominant 2 Myopia 23, autosomal recessive Leigh syndrome, French-Canadian type Ciliary dyskinesia, primary 19 Agammaglobulinemia 5 Parkinson disease 8 Dementia, Lewy body Charcot-Marie-Tooth disease, axonal, type 2P Deafness, autosomal recessive 63 Cataract 44 Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3 Dental anomalies and short stature Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Asthma, aspirin-induced, susceptibility to Combined oxidative phosphorylation deficiency 19 Mitochondrial complex III deficiency, nuclear type 8 Chediak-Higashi syndrome Amyloidosis, systemic nonneuropathic Bardet-Biedl syndrome 17 Schwannomatosis 2 Noonan syndrome 10 Microphthalmia, syndromic 14 Ayme-Gripp syndrome Multicentric carpotarsal osteolysis Spastic paraplegia, autosomal recessive 75 Bartter syndrome type 5, antenatal transient Schaaf-Yang syndrome (Prader-Willi-like syndrome) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia Retinitis pigmentosa 62 Immunodeficiency 12 Hypospadias 2, X-linked Mental retardation, autosomal recessive 15 Mannosidosis, alpha B, lysosomal Mannosidosis, beta A, lysosomal Brunner syndrome 46,XY sex reversal 6 Primary immunodeficiency with multifaceted aberrant lymphoid immunity Epileptic encephalopathy, Lennox-Gastaut type Diabetes mellitus Congenital symmetric circumferential skin creases 2 Supranuclear palsy, progressive Frontotemporal dementia Parkinson-dementia sydnrome Pick disease Interstitial lung and liver disease Combined oxidative phosphorylation deficiency 25 Deafness, autosomal recessive 49 3MC syndrome 1 MASP2 deficiency Methionine adenosyltransferase deficiency Spondyloepimetaphyseal dysplasia, matrilin-3 related Epiphyseal dysplasia, multiple, 5 Amyotrophic lateral sclerosis 21 Mental retardation, autosomal dominant 1 Mannose-binding protein deficiency Keratosis follicularis spinulosa decalvans, X-linked IFAP syndrome with or without BRESHECK syndrome Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked Increased analgesia from kappa-opioid receptor agonist, female specific Glucocorticoid deficiency 1 Obesity, autosomal dominant 3-Methylcrotonyl-CoA carboxylase 1 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency Methylmalonyl-CoA epimerase deficiency Factor V & Factor VIII, combined deficiency of Natural killer cell and glucocorticoid deficiency with DNA repair defect Lactose intolerance, adult type Lactase persistence Premature ovarian failure 10 Ovarian dysgenesis 4 Mucolipidosis IV Microcephaly, primary autosomal recessive, 1 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Rett syndrome Encephalopathy, neonatal severe, due to MECP2 mutations Autism, X-linked 3 Mental retardation, X-lnked syndromic 13 Mental retardation, X-linked 79 Lujan-Fryns syndrome Opitz-Kaveggia syndrome Mental retardation, X-linked, with Marfanoid habitus FG syndrome Ohdo syndrome Transposition of the great arteries, dextro-looped 1 Mental retardation and distinctive facial features with or without cardiac defects Congenital heart defects and intellectual disability Intellectual disability, autosomal recessive Microcephaly, postnatal progressive, with seizures and brain atrophy Mental retardation, autosomal recessive 18 Basel-Vanagait-Smirin-Yosef syndrome Charcot-Marie-Tooth disease, axonal, tybe 2B2 Mental retardation, autosomal dominant 20 Familial Mediterranean fever Myopathy, early-onset, areflexia, respiratory distress, and dysphagia Carpenter syndrome 2 Multiple endocrine neoplasia type I Klippel-Feil syndrome 2 Retinitis pigmentosa 38 Spondylocostal dysostosis 2, autosomal recessive Renal cell carcinoma, papillary Deafness, autosomal recessive 97 Mental retardation, autosomal recessive 44 Aortic aneurysm, familial thoracic 9 Charcot-Marie-Tooth disease, type 2A2 Hereditary motor and sensory neuropathy VIA Microphthalmia, isolated 5 Nanophthalmos 2 Microcephaly 15, primary, autosomal recessive Ceroid lipofuscinosis, neuronal, 7 Congenital disorder of glycosylation, type IIa Mitochondrial DNA depletion syndrome 11 Keutel syndrome Left ventricular noncompaction 7 Myopathy with extrapyramidal signs Opitz GBBB syndrome, type I Mental retardation, X-linked 101 Cataract 15, multiple types Feingold syndrome 2 Keratoconus with cataract Retinal dystrophy and iris coloboma with or without congenital cataract Deafness, autosomal dominant 50 Waardenburg syndrome, type 2A Tietz albinism-deafness syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Renal cell carcinoma with or without malignant melanoma McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Central precocious puberty Meckel syndrome 1 Bardet-Biedl syndrome 13 Megalencephalic leukoencephalopathy with subcortical cysts Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome Endometrial cancer Muir-Torre syndrome Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma Griscelli syndrome, type 3 Malonyl-CoA decarboxylase deficiency Methylmalonic acidemia, cblA type Methylmalonic acidemia, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Metaphyseal anadysplasia 1 Metaphyseal dysplasia, Spahr type Spondyloepimetaphyseal dysplasia, Missouri type Winchester syndrome Cavitary optic disc anomalies Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy Amelogenesis imperfecta, hypomaturation type, IIA2 Heterotaxy, visceral, 7 Metaphyseal anadysplasia 2 Meningioma, familial Currarino syndrome Molybdenum cofactor deficiency, type A Molybdenum cofactor deficiency, type B Narcolepsy 7 Congenital disorder of glycosylation, type IIb Charcot-Marie-Tooth disease type, axonal, type 2Z Mitochondrial pyruvate carrier deficiency Congenital disorder of glycosylation, type If Hydrocephalus, nonsyndromic, autosomal recessive 2 Congenital disorder of glycosylation, type Ib Thrombocythemia 2 Amegakaryocytic thrombocytopenia Trichothiodystrophy 4, nonphotosensitive Myeloperoxidase deficiency Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Charcot-Marie-Tooth disease, dominant intermediate 3 Charcot-Marie-Tooth disease, axonal, type 2J Charcot-Marie-Tooth disease, axonal, type 2I Neuropathy, congenital hypomyelinating Roussy-Levy syndrome Charcot-Marie-Tooth disease, type 1B Paroxysmal nonkinesigenic dyskinesia Glucocorticoid deficiency 2 Combined oxidative phosphorylation deficiency 9 Mitochondrial cardiomyopathy, autosomal recessive Combined oxidative phosphorylation deficiency 2 Combined oxidative phosphorylation deficiency 5 Immunodeficiency, common variable, 5 Colorectal cancer, hereditary nonpolyposis, type 1 Colorectal cancer, hereditary nonpolyposis type 5 Microcephaly, congenital cataract, and psoriasiform dermatitis Barrett esophagus/esophageal adenocarcinoma Prostate cancer Deafness, autosomal recessive 74 Muscle hypertrophy Orofacial cleft 5 Tooth agenesis, selective, 1, with/without orofacial cleft Witkop syndrome Craniosynostosis, type 2 Parietal foramina with cleidocranial dysplasia Parietal foramina 1 Myopathy, lactic acidosis, and sideroblastic anemia 3 Brain pseudoatrophy, reversible, valproate-induced, susceptibility to Deafness, mitochondrial Cytochrome c oxidase deficiency Leber optic atrophy and dystonia Myoclonic epilepsy with ragged red fibers Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Oncocytoma Chloramphenicol toxicity/resistance Diabetes-deafness syndrome Mitochondrial myopathy, infantile, transient Mitochondrial myopathy with diabetes Nephropathy, tubulointerstitial Encephalopathy, mitochondrial Epilepsy, mitochondrial Myopathy, mitochondrial Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes Deafness Diaphyseal medullary stenosis with malignant fibrous histiocytoma Combined oxidative phosphorylation deficiency 15 Severe combined immunodeficiency Homocystinuria due to MTHFR deficiency Myopathy, centronuclear, X-linked Charcot-Marie-Tooth disease, type 4B1 Combined oxidative phosphorylation deficiency 10 Smith-Kingsmore syndrome Spastic ataxia 4, autosomal recessive Methylmalonic acidemia, cblG type Homocystinuria-megaloblastic anemia, cobalamin E type Abetalipoproteinemia Medullary cystic kidney disease 1 Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency Familial adenomatous polyposis, 2 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Porokeratosis 7 Mevalonic aciduria Hyper-IgD syndrome Arthrogryposis, distal, type 1B Lethal congenital contractural syndrome 4 Cardiomyopathy, familial hypertrophic, 4 Cardiomyopathy, dilated, 1MM Left ventricular noncompaction 10 Feingold syndrome MYD88 deficiency Myopathy, centronuclear, 3 Aortic aneurysm, familial thoracic 4 Deafness, autosomal dominant 4 Peripheral neuropathy, myopathy, hoarseness, and hearing loss Inclusion body myopathy 3 Arthrogryposis, distal, type 2A Arthyrgryposis, distal, type 2B Arthrogryposis, distal, type 8 Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14 Cardiomyopathy, dilated, 1S Myopathy, distal Myopathy, myosin storage, autosomal recessive Carney complex variant Arthrogryposis, distal, type 7 Trismus-pseudocamptodactyly syndrome Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness Cardiomyopathy, familial hypertrophic, 10 Cardiomyopathy, familial hypertrophic, 8 Aortic aneurysm, familial thoracic 7 Cardiomyopathy, hypertrophic Deafness, autosomal recessive 3 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Deafness, autosomal dominant 48 Focal segmental glomerulosclerosis 6 Deafness, autosomal recessive 30 Griscelli syndrome, type 1 Diarrhea 2, with microvillus atrophy Deafness, autosomal recessive 37 Deafness, autosomal recessive 2 Usher syndrome, type 1B Glaucoma, primary open angle Myopathy, myofibrillar, 3 Cardiomyopathy, familial hypertrophic, 16 Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4 Mental retardation, autosomal dominant 39 N-terminal acetyltransferase deficiency (Ogden syndrome) Kanzaki disease Alpha-n-acetylgalactosaminidase deficiency Schindler disease type I Schindler disease type III Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) N-acetylglutamate synthase deficiency Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Spermatogenic failure 12 Combined oxidative phosphorylation deficiency 24 Acetylation, NAT1-related Acetylation, NAT2-related N-acetylaspartate deficiency Infantile liver failure syndrome 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) Gray platelet syndrome Nijmegen breakage syndrome Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III Acne inversa, familial 1 Lissencephaly 4 Microhydranencephaly Norrie disease Exudative vitreoretinopathy, 2, X-linked Charcot-Marie-Tooth disease, type 4D Mental retardation, autosomal recessive 46 Thyroid carcinoma, Hurthle cell Linear skin defects with multiple congenital anomalies 3 Nemaline myopathy 2 Epileptic encephalopathy, early infantile 21 Cleft lip/palate-ectodermal dysplasia syndrome Ectodermal dysplasia-syndactyly syndrome Charcot-Marie-Tooth disease, axonal, type 2CC Charcot-Marie-Tooth disease, axonal, type 2E Short-rib thoracic dysplasia 6 with or without polydactyly Retinitis pigmentosa 67 Nephronophthisis 9 Sialidosis, type I Sialidosis, type II Maturity onset diabetes of the young 6 Diarrhea 4, malabsorptive, congenital Cardiomyopathy, familial hypertrophic, 20 Cardiomyopathy, dilated, 1CC Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome Neurofibromatosis type II Marshall-Smithsyndrome Sotos syndrome 2 Immunodeficiency, common variable, 12 Immunodeficiency, common variable, 10 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency Multiple mitochondrial dysfunctions syndrome 1 Neuropathy, hereditary sensory and autonomic, type V Congenital disorder of deglycosylation Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Epilepsy, progressive myoclonic 2B (Lafora) Dyskeratosis congenita, autosomal recessive 2 Nance-Horan syndrome Cataract 40 Seckel syndrome 7 Spastic paraplegia 6 Ichthyosis, congenital, autosomal recessive Cornelia de Lange syndrome 1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress Thyroid cancer, nonmedullary 1 Atrial septal defect 7, with or without AV conduction defects Conotruncal heart malformations Hypothyroidism, congenital nongoitrous, 5 Persistent truncus arteriosus Spondylo-megaepiphyseal-metaphyseal dysplasia Asperger syndrome, X-linked 1 Autism, X-linked 1 Asperger syndrome, X-linked 2 Autism, X-linked 2 Mental retardation, X-linked Autoinflammation with infantile enterocolitis (AIFEC) Familial cold autoinflammatory syndrome 4 Corneal intraepithelial dyskeratosis and ectodermal dysplasia Familial cold autoinflammatory syndrome 2 Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome Neonatal Onset Multisystem Inflammatory Disease (NOMID) Muckle-Wells syndrome Hydatidiform mole, recurrent, 1 Ciliary dyskinesia, primary, 6 Glucocorticoid deficiency 4 Premature ovarian failure 5 Blau syndrome Sarcoidosis, early-onset Heterotaxy, visceral, 5 Tarsal-carpal coalition syndrome Multiple synostosis syndrome 1 Symphalangism, proximal Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome) Myoclonus, familial cortical Mental retardation, X-linked, syndrome 34 Dyskeratosis congenita, autosomal recessive 1 Spinocerebellar ataxia 36 Aortic valve disease Alagille syndrome 2 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1) Nodular lymphocyte predominant Hodgkin lymphoma, familial Niemann-Pick disease, type C1 Niemann-Pick disease, type D Ezetimibe, nonresponse to Niemann-pick disease, type C2 Joubert syndrome 4 Senior-Loken syndrome 1 Nephronophthisis 1 Nephronophthisis 3 Meckel syndrome 7 Renal-hepatic-pancreatic dysplasia Nephronophthisis 4 Senior-Loken syndrome 4 Nephrotic syndrome, type 1 Nephrotic syndrome, type 2 Atrial fibrillation, familial, 6 Atrial standstill 2 Epiphyseal chondrodysplasia, Miura type Short stature with nonspecific skeletal abnormalities Acromesomelic dysplasia, Maroteaux type Adrenal hypoplasia, congenital 46,XY sex reversal 2 Enhanced S-cone syndrome Retinitis pigmentosa 37 Bosch-Boonstra optic atrophy syndrome Congenital heart defects 4 Glucocorticoid resistance Pseudohypoaldosteronism type I, autosomal dominant Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy Adrenocortical insufficiency 46, XY sex reversal, 3 Premature ovarian failure 7 Autoimmune lymphoproliferative syndrome type IV Noonan syndrome 6 Retinitis pigmentosa 27 Clumped pigmentary retinal degeneration Schizophrenia 17 Pitt-Hopkins-like syndrome 2 Sotos syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) CK syndrome Hypogonadotropic hypogonadism 9 with or without anosmia Spastic paraplegia 45 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Calcification of joints and arteries Glaucoma 1, open angle, O Familial adenomatous polyposis 3 Insensitivity to pain, congenital, with anhidrosis Obesity, hyperphagia, and developmental delay Nucleoside diphosphate-linked moiety X motif 15 deficiency Nephrotic syndrome, type 11 Atrial fibrillation 15 Nephrotic syndrome, type 13 Striatonigral degeneration, infantile Familial heart block and focal segmental glomerulosclerosis Night blindness, congenital stationary, type 1A Gyrate atrophy of choroid and retina Three M syndrome 2 Albinism, oculocutaneous, type II Albinism, brown oculocutaneous Band-like calcification with simplified gyration and polymicrogyria Dent disease 2 Lowe syndrome Amelogenesis imperfecta, hypomaturation type, IIA4 Orofaciodigital syndrome 1 Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Retinitis pigmentosa 23 Glaucoma, normal tension, susceptibility to 3-methylglutaconic aciduria, type III Optic atrophy 3, autosomal dominant Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 5-oxoprolinase deficiency Colorblindness, partial, protan series Blue cone monochromacy Red cone polymorphism Colorblindness, partial, deutan series Cone dystrophy 5, X-linked Tritanopia Glaucoma 1, open angle, E Immunodeficiency 9 Meier-Gorlin syndrome 1 Meier-Gorlin syndrome 2 Meier-Gorlin syndrome 3 Deafness, autosomal dominant 67 Amyloidosis, primary localized cutaneous, 1 Osteopetrosis, autosomal recessive 5 Ornithine transcarbamylase deficiency Deafness, autosomal recessive 22 Deafness, autosomal recessive 9 Neuropathy, autosomal recessive, 1 Deafness, autosomal recessive 18B Deafness, autosomal recessive 84B Pituitary hormone deficiency, combined 6 Microphthalmia, syndromic 5 Retinal dystrophy, early-onset, and pituitary dysfunction Corneal dystrophy, posterior polymorphous, 1 Succinyl CoA:3-oxoacid CoA transferase deficiency Deafness, autosomal dominant 41 Bleeding disorder, platelet-type, 8 Osteogenesis imperfecta, type VIII Myopia, high, with cataract and vitreoretinal degeneration Cole Carpenter syndrome 1 Oculopharyngeal muscular dystrophy Mental retardation, autosomal dominant 17 Lissencephaly 1 Subcortical laminar heterotopia Phenylketonuria Hyperphenylalaninemia, non-PKU mild Mental retardation, X-linked 30 Pancreatic cancer, susceptibility to 3 Fanconi anemia, complementation group N Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Neurodegeneration with brain iron accumulation 1 Brachyolmia 4 with mild epiphyseal and metaphyseal changes Parkinson disease 2, autosomal recessive juvenile Parkinson disease 7, autosomal recessive early-onset Pulmonary fibrosis and/or bone marrow failure, telomere-related 4 Dyskeratosis congenita, autosomal recessive 6 Otofaciocervical syndrome 2 Isolated renal hypoplasia Papillorenal syndrome Waardenburg syndrome, type 1 Waardenburg syndrome, type 3 Craniofacial-deafness-hand syndrome Pre-B cell acute lymphoblastic leukemia Cataract with late-onset corneal dystrophy Aniridia Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome) Optic nerve hypoplasia Keratitis Foveal hypoplasia 1 Morning glory disc anomaly Hypothyroidism, congenital, nongoitrous 2 Tooth agenesis, selective, 3 Clear cell renal cell carcinoma Pyruvate carboxylase deficiency Hyperphenylalaninemia, BH4-deficient, D Propionic acidemia Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic Epileptic encephalopathy, early infantile, 9 Ataxia-telangiectasia-like disorder 2 Microcephalic osteodysplastic primordial dwarfism, type II Proprotein convertase 1/3 deficiency Hypercholesterolemia, familial, 3 Spondylometaphyseal dysplasia with cone-rod dystrophy Cerebral cavernous malformations 3 Striatal degeneration, autosomal dominant 2 Infantile-onset dyskinesia Pigmented nodular adrenocortical disease, primary, 2 Hypertension with brachydactyly Acrodysostosis 2, with or without hormone resistance Retinitis pigmentosa 43 Night blindness, congenital stationary, autosomal dominant 2 Retinitis pigmentosa 40 Cone dystrophy 4 Joubert syndrome 22 Retinitis pigmentosa 57 Achromatopsia 6 Retinal cone dystrophy 3A Pigmented nodular adrenocortical disease, primary, 3 Basal ganglia calcification, idiopathic, 4 Kosaki overgrowth syndrome Myofibromatosis, infantile 1 Premature aging syndrome, Penttinen type Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked Pyruvate dehydrogensae E1-beta deficiency Pyruvate dehydrogenase E3-binding protein deficiency Charcot-Marie-Tooth disease, X-linked Pyruvate dehydrogenase phosphatase deficiency Coenzyme Q10 deficiency 2 Coenzyme Q10 deficiency 3 Pancreatic agenesis 1 Neonatal diabetes mellitus Spinocerebellar ataxia 23 Prolidase deficiency Advanced sleep phase syndrome, familial Advanced sleep phase syndrome, familial, 3 Heimler syndrome 1 Peroxisome biogenesis disorder 6B Peroxisome biogenesis factor disorder 10 Adrenoleukodystrophy, neonatal Zellweger syndrome Ataxia, autosomal recessive Peroxisome biogenesis factor disorder 14B Peroxisome biogenesis disorder 3A Peroxisome biogenesis factor disorder 3B Peroxisome biogenesis factor disorder 13 Peroxisome biogenesis factor disorder 14 Peroxisome biogenesis factor disorder 16 Peroxisome biogenesis disorder, 19 Peroxisome biogenesis disorder 5A Peroxisome biogenesis disorder 5B Peroxisome biogenesis factor disorder, 26 Refsum disease, infantile Peroxisome biogenesis factor disorder 3 Zellwegger syndrome complementation group G Peroxisome biogenesis disorder, 5 Rhizomelic chondrodysplasia punctata, type 5 Heimler syndrome 2 Refsum disease Glycogen storage disease VII Amyotrophic lateral sclerosis 18 Glycogen storage disease X Mental retardation, autosomal recessive 42 Hyperphosphatasia with mental retardation syndrome 3 Hyperphosphatasia with mental retardation syndrome 4 Phosphoglycerate kinase 1 deficiency Congenital disorder of glycosylation, type It Immunodeficiency 23 Primary microcephaly 11 Hypophosphatemic rickets, X-linked dominant Borjeson-Forssman-Lehmann syndrome Mental retardation syndrome, X-linked, Siderius type Phosphoglycerate dehydrogenase deficiency Glycogen storage disease, type Ixd Glycogen storage disease, type IXa1/Glycogen storage disease, type IXa2 (Phosphorylase kinase deficiency) Glycogen storage disease IXb Glycogen storage disease IXc Fibrosis of extraocular muscles, congenital, 2 Neuroblastoma with Hirschsprung disease Neuroblastoma, susceptiblity to, 2 Phosphohydroxylysinuria Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome Multiple congenital anomalies-hypotonia-seizures syndrome 2 Mental retardation, autosomal recessive 53 CHIME syndrome Glycosylphosphatidylinositol deficiency Multiple congenital anomalies-hypotonia-seizures syndrome 1 Hyperphosphatasia with mental retardation syndrome 2 Multiple congenital anomalies-hypotonia-seizures syndrome 3 Hyperphosphatasia with mental retardation syndrome 1 Hyperphosphatasia with mental retardation syndrome 5 Hyperphosphatasia with mental retardation syndrome 6 Cowden syndrome 5 Immunodeficiency 14 Agammaglobulinemia 7, autosomal recessive Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Ataxia-oculomotor apraxia 3 Corneal fleck dystrophy Parkinson disease 6, autosomal recessive, early onset Lethal congenital contractural syndrome 3 Cone-rod dystrophy 5 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome Axenfeld-Rieger syndrome, type 1 Ring dermoid of cornea Iridogoniodysgenesis, type 2 Cataract, posterior polar, 4 Cataract, congenital Cataract, posterior polar 4, syndromic Polycystic kidney disease, adult type I Polycystic kidney disease 2 Polycystic kidney disease, autosomal recessive Pyruvate kinase deficiency Ectodermal dysplasia/skin fragility syndrome Arrhythmogenic right ventricular dysplasia, familial 9 Phospholipase A2, group IV A, deficiency of Fleck retina, familial benign Parkinson disease 14, autosomal recessive Neurodegeneration with brain iron accumulation 2A Neurodegeneration with brain iron accumulation 2B Platelet-activating factor acetylhydrolase deficiency Diabetes mellitus, transient neonatal Quebec platelet disorder Epileptic encephalopathy, early infantile, 12 Auriculocondylar syndrome 2 Nail disorder, nonsyndromic congenital, 3 Nephrotic syndrome, type 3 Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID) Muscular dystrophy, limb-girdle, type 2Q Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Leukodystrophy and acquired microcephaly with or without dystonia Charcot-Marie-Tooth disease C, recessive intermediate Spinal muscular atrophy, distal, autosomal recessive, 4 Osteopetrosis, autosomal recessive 6 Plasminogen deficiency, type I Lipodystrophy, familial partial, type 4 Microcephaly and chorioretinopathy, autosomal recessive 2 Cardiomyopathy, dilated, 1P Cardiomyopathy, familial hypertrophic, 18 Ehlers-Danlos syndrome type VI Bruck syndrome 2 Bone fragility with contractures, arterial rupture, and deafness Spastic paraplegia-2 Pelizaeus-Merzbacher disease Osteoporosis and osteoporotic fractures Congenital disorder of glycosylation, type Ia Charcot-Marie-Tooth syndrome, type 1A Charcot-Marie-Tooth syndrome with deafness (type 1E) Neuropathy, hereditary, with liability to pressurve palsies Neuropathy, inflammatory demyelinating Spinocerebellar ataxia, autosomal recessive 2 Colorectal cancer, hereditary nonpolyposis type 4 Porokeratosis 1 Ataxia-oculomotor apraxia-4 Epileptic encephalopathy, early infantile, 10 Purine nucleoside phosphorylase deficiency Ichthyosis, congenital, autosomal recessive 10 Neutral lipid storage disease with myopathy Boucher-Neuhauser syndrome Laurence-Moon syndrome Oliver-McFarlane syndrome Mitochondrial myopathy with lactic acidosis Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent Deafness, autosomal recessive 70 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome) Cone-rod dystrophy 20 Premature ovarian failure 2B Dowling-Degos disease 2 Dowling-Degos disease 4 Mental retardation, autosomal dominant 37 (White-Sutton syndrome) Colorectal cancer, susceptibility to, 10 Colorectal cancer, susceptibility to, 12 Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4B Sensory ataxia, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4A (Alpers type) Alpers syndrome POLG-related ataxia neuropathy spectrum disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Xeroderma pigmentosum, variant type Acrofacial dysostosis, Cincinnati type Treacher Collins syndrome 3 Treacher Collins syndrome 2 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Proopiomelanocortin deficiency Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 12 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type C, 12 Muscle-eye brain disease Walker-Warburg syndrome Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2 Clopidogrel treatment, sensitivity to Antley-Bixler syndrome Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Focal dermal hypoplasia Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to 10 Pituitary hormone deficiency, combined 1 Deafness, X-linked 2 Deafness, autosomal dominant 15 Wilms tumor 5 Lipodystrophy, familial, partial, type 3 Insulin resistance, severe, digenic Osteogenesis imperfecta, type IX Maple syrup urine disease, mild variant Porphyria variegata Microcephaly, short stature, and impaired glucose metabolism 2 Mental retardation, autosomal dominant 36 Spinocerebellar ataxia 12 Mental retardation, autosomal dominant 35 Ceroid lipofuscinosis, neuronal, 1 Renpenning syndrome Retinitis pigmentosa 36 Neuropathy, hereditary sensory and autonomic, type VIII Cardiomyopathy, dilated, ILL Left ventricular noncompaction 8 Brittle cornea syndrome 2 Epilepsy, progressive myoclonic, 10 Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin Aplastic anemia, adult-onset Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Epilepsy, progressive myoclonic, 1B Epilepsy, progessive myoclonic 5 Myopia 22, autosomal dominant Primary pigmented nodular adrenocortical disease 4 Bleeding disorder, platelet-type, 19 Cardiomyopathy, familial hypertrophic 6 Wolff-Parkinson-White syndrome Increased glyogen content in skeletal muscle Pigmented nodular adrenocortical disease, primary, 1 Carney complex, type 1 Myxoma, intracardiac Acrodysostosis 1, with or without hormone resistance Autoimmune lymphoproliferative syndrome type III Spinocerebellar ataxia 14 Polycystic liver disease Immunodeficiency 26 with or without neurologic abnormalities Aortic aneurysm, familial thoracic 8 Dystonia 16 Hyperprolactinemia Multiple fibroadenomas of the breast Spongiform encephalopathy with neuropsychiatric features Huntington disease-like 1 Gerstmann-Straussler disease Creutzfeldt-Jakob disease Insomnia, fatal familial Thrombophilia, hereditary, due to protein C deficiency Hyperprolinemia, type I Hypogonadotropic hypogonadism 4 with or without anosmia Hypogonadotropic hypogonadism 3 with or without anosmia Cone-rod dystrophy 12 Macular dystrophy, retinal, 2 Stargardt disease 4 Retinitis pigmentosa 41 Pituitary hormone deficiency, combined, 2 Thrombophilia, hereditary, due to protein S deficiency Protein Z deficiency Retinitis pigmentosa 18 Retinitis pigmentosa 11 Retinitis pigmentosa 70 Retinitis pigmentosa 60 Retinitis pigmentosa 13 Choriodal dystrophy, central areolar 2 Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7 Arts syndrome Deafness, X-linked 1 Phosphoribosylpyrophosphate synthetase I superactivity Episodic kinesigenic dyskinesia 1 Agnathia-otocephaly complex Pancreatitis, hereditary Mental retardation, autosomal recessive 1 Microphthalmia, isolated 6 Charcot-Marie-Tooth disease, type 4F Krabbe disease, atypical Combined saposin deficiency Gaucher disease, atypical, due to saposin C deficiency Metachromatic leukodystrophy due to saposin-b deficiency Phosphoserine aminotransferase deficiency Cardiomyopathy, dilated 1U Cardiomyopathy, dilated, 1V Peripartum/pregnancy-associated cardiomyopathy Acne inversa, familial, 2 Nakajo-Nishimura syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome Ovarian dysgenesis 3 Phosphoserine phosphatase deficiency Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Basal cell nevus syndrome Autism susceptibility, X-linked 4 Lenz-Majewski hyperostotic dwarfism PTEN hamartoma tumor syndrome Cowden syndrome Bannayan-Riley-Ruvalcaba syndrome Lhermitte-Duclos syndrome Glioma susceptibility 2 Pancreatic and cerebellar agenesis Pancreatic agenesis 2 Eiken syndrome Chondrodysplasia, Blomstrand type Metaphyseal chondrodysplasia, Murk Jansen type Failure of tooth eruption, primary Brachydactyly, type E2 LEOPARD syndrome 1 Choanal atresia and lymphedema Breasts and/or nipples, aplasia or hypoplasia of, 2 Nephrotic syndrome, type 6 Deafness, autosomal recessive 84 Lipodystrophy, congenital generalized, type 4 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) Hyperphenylalaninemia, BH4-deficient, A Mental retardation, autosomal dominant 31 Myopathy, lactic acidosis, and sideroblastic anemia 1 Corneal opacification with other ocular anomalies Cutis laxa, autosomal recessive, type IIB Cutis laxa, autosomal recessive type IIIB Leukodystrophy, hypomyelinating 10 Glycogen storage disease VI Glycogen storage disease V Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Hyperphenylalaninemia, BH4-deficient, C Warburg micro syndrome 3 Carpenter syndrome 1 Griscelli syndrome, type 2 Elejalde syndrome Cone-rod dystrophy 18 Dyggve-Melchior-Clausen syndrome Smith-McCort dysplasia 2 Mental retardation, X-linked 72 Waisman parkinsonism-mental retardation syndrome Warburg micro syndrome 1 Warburg micro syndrome 2 Martsolf syndrome Charcot-Marie-Tooth disease, axonal, type 2B Neutrophil immunodeficiency syndrome Cornelia de Lange syndrome 4 Mirror movements 2 Fanconi anemia goup O Ovarian cancer, familial, susceptibility to Cardiomyopathy, dilated, 1NN LEOPARD syndrome 2 Noonan syndrome 5 T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Combined cellular and humoral immune defects with granulomas Smith-Magenis syndrome Encephalopathy, acute, infection-induced, 3, susceptibility to Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency Microphthalmia, syndromic 12 Leukodystrophy, hypomyelinating 9 Pontocerebellar hypoplasia, type 6 Capillary malformation-arteriovenous malformation Parkes Weber syndrome Spinal arteriovenous anomalies Bleeding disorder, platelet-type, 18 Microphthalmia, isolated 3 Cone-rod dystrophy 11 Retinoblastoma Seckel syndrome 2 Jawad syndrome Polyglucosan body myopathy 1 TARP syndrome Cardiomyopathy, dilated, 1DD Alopecia, neurologic defects, and endocrinopathy syndrome Mental retardation, X-linked, syndromic 11, Shashi type Retinitis pigmentosa 66 Osteogenesis imperfecta, type VI Retinol dystrophy, iris coloboma, and comedogenic acne syndrome Adams-Oliver syndrome 3 Leber congenital amaurosis 12 Microphthalmia, isolated, with coloboma 10 Retinal dystrophy, juvenile cataracts, and short stature syndrome Leber congenital amaurosis 13 Retinitis pigmentosa 53 Fundus albipunctatus Deafness, autosomal recessive 24 Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome Spastic paraplegia 31 Distal hereditary motor neuronopathy VB Spastic paraplegia 72 Epilepsy, familial temporal lobe, 7 Lissencephaly 2 Hyperuricemic nephropathy, familial juvenile 2 Wilms tumor 6, susceptibility to Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Hirschsprung disease, susceptibility to 1 Congenital disorder of glycosylation, type In Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula Martinez-Frias syndrome Mitchell-Riley syndrome MHC class II deficiency Retinitis pigmentosa 44 Bradyopsia Overhydrated hereditary stomatocytosis Anemia, hemolytic, Rh-null, regulator type Anemia, hemolytic,Rh-Mod type RHAG blood group Tylosis with esophageal cancer Rhesus blood group Retinitis pigmentosa 4 Night blindness, congenital stationary, autosomal dominant 1 Cone-rod dystrophy 7 Macrocephaly, alopecia, cutis laxa, and scoliosis Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome Spondylocostal dysostosis, autosomal recessive 6 Noonan syndrome 8 Newfoundland rod-cone dystrophy Bothnia retinal dystrophy Combined oxidative phosphorylation deficiency 11 Anauxetic dysplasia Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 Aicardi-Goutieres syndrome 4 Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome 3 Prostate cancer, hereditary, 1 Leukoencephalopathy, cystic, without megalencephaly Trichothiodystrophy 5, nonphotosensitive Tenorio syndrome Macrocephaly, macrosomia, facial dysmorphism syndrome Renal cell carcinoma, clear cell RIDDLE syndrome Moyamoya disease 2 Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome) Roifman syndrome Congenital anomalies of the kidney and urinary tract Gaze palsy, horizontal, with progressive scoliosis Kohlschutter-Tonz syndrome Retinitis pigmentosa 7, digenic Robinow syndrome, autosomal recessive Brachydactyly, type B1 Immunodeficiency 42 Retinitis pigmentosa 1, autosomal dominant Retinitis pigmentosa 1, autosomal recessive Occult macular dystrophy Retinitis pigmentosa 2 Retinitis pigmentosa 9 Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Leber congenital amaurosis 6 Cone-rod dystrophy 13 Meckel syndrome 5 Joubert syndrome 7 Retinal degeneration in ciliopathy, modifier of Ribose 5-phosphate isomerase deficiency Diamond-Blackfan anemia 7 Diamond-Blackfan anemia 12 Hypotrichosis 12 Diamond-Blackfan anemia 11 Diamond-Blackfan anemia 5 Diamond-Blackfan anemia 6 Diamond-Blackfan anemia 9 Diamond-Blackfan anemia 4 Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 3 Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia 13 Coffin-Lowry syndrome Mental retardation, X-linked 19 Diamond-Blackfan anemia 8 Asplenia, isolated congenital Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 Mitochondrial DNA depletion syndrome 8A Mitochondrial DNA depletion syndrome 8B Retinoschisis 1, X-linked, juvenile Ciliary dyskinesia, primary, 24 Ciliary dyskinesia, primary, 32 Ciliary dyskinesia, primary, 11 Ciliary dyskinesia, primary, 12 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal Anonychia/hyponychia congenita Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type Pulmonary fibrosis and/or bone marrow failure, telomere-related 3 Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5 Spastic paraplegia 12, autosomal dominant Optic atrophy 10 with or without ataxia, mental retardation, and seizures Microcephaly, short stature, and polymicrogyria with or without seizures Platelet disorder, familial, with associated myeloid malignancy Cleidocranial dysplasia Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Malignant hyperthermia, susceptibility 1 Central core disease Minicore myopathy Multicore myopathy Minicore myopathy with external ophthalmoplegia Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia) Ventricular tachycardia, catecholaminergic polymorphic, 1 Arrhythmogenic right ventricular dysplasia 2 Deafness, autosomal recessive 68 Spastic ataxia, Charlevoix-Saguenay type Retinitis pigmentosa 47 Oguchi disease 1 Townes-Brocks syndrome Ocular coloboma Duane-radial ray/Okohiro syndrome Acro-Renal-Ocular syndrome Tumoral calcinosis, normophosphatemic Aicardi-Goutieres syndrome 5 Chylomicron retention disease (Anderson disease) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Porokeratosis, disseminated superficial actinic, 1 Microcephaly 14, primary, autosomal recessive Episodic pain syndrome, familial, 3 Shwachman-Diamond syndrome Aplastic anemia Charcot-Marie-Tooth disease, type 4B3 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma Lathosterolosis Epilepsy, progressive myoclonic 4, with or without renal failure Van den Ende-Gupta syndrome Migraine, familial hemiplegic 3 Atrial fibrillation, familial 13 Brugada syndrome 5 Epileptic encephalopathy, early infantile, 11 Seizures, benign familial infantile, 3 Atrial fibrillation, familial 14 Brugada syndrome 7 Atrial fibrillation, familial 16 Paramyotonia congenita Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Normokalemic potassium-sensitive periodic paralysis Malignant hyperthermia, susceptibility to Myasthenic syndrome, congenital, 16 Myotonia, potassium-aggravated Long QT syndrome 10 Atrial fibrilliation, familial 17 Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1 Cognitive impairment with or without cerebellar ataxia Epileptic encephalopathy, early infantile, 13 Paroxysmal extreme pain disorder Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 2 Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3 Myopia 6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy Leukoencephalopathy with dystonia and motor neuropathy Spinocerebellar ataxia, autosomal recessive 21 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency Mitochondrial complex II deficiency Paragangliomas 2 Cowden-like syndrome Paraganglioma and gastric stromal sarcoma Paragangliomas 4 Paragangliomas 3 Cowden syndrome 3 Paragangliomas 1 Carcinoid tumors, intestinal Craniolenticulosutural dysplasia Cowden syndrome 7 Anemia, dyserythropoietic congenital, type II Selenoprotein deficiency Hypogonadotropic hypogonadism 16 with or without anosmia Cone-rod dystrophy 10 Retinitis pigmentosa 35 Blood group, John Milton Hagen Muscular dystrophy, rigid spine, 1 Myopathy, congenital, with fiber-type disproportion Pontocerebellar hypoplasia, type 2D Spermatogenic failure 10 Amyotrophy, hereditary neuralgic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Alpha-1-Antitrypsin deficiency Corticosteroid-binding globulin deficiency Thyroxine-binding globulin deficiency Thyroxine-binding globulin excess Deafness, autosomal recessive 91 Palmoplantar keratoderma, Nagashima type Antithrombin III deficiency Heparin cofactor II deficiency Plasminogen activator inhibitor-1 deficiency Alpha-2-plasmin inhibitor deficiency Angioedema, hereditary Osteogenesis imperfecta, type X Encephalopathy, familial, with neuroserpin inclusion bodies Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome Luscan-Lumish syndrome Mental retardation, autosomal dominant 23 Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2 Acrofacial dysostosis 1, Nager type Pulmonary fibrosis, idiopathic Surfactant metabolism dysfunction, pulmonary 1 Surfactant metabolism dysfunction, pulmonary, 2 Combined oxidative phosphorylation deficiency 18 Muscular dystrophy, limb-girdle, type 2D Muscular dystrophy, limb-girdle, type 2E Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, type 2F Dystonia 11, myoclonic Muscular dystrophy, limb-girdle, type 2C Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A) Lymphoproliferative syndrome, X-linked Cherubism Frank-ter Haar syndrome Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild Autism, susceptibility to 17 Phelan-McDermid syndrome Holoprosencephaly 3 Microphthalmia with coloboma 5 Noonan-like syndrome with loose anagen hair Langer mesomelic dysplasia Leri-Weill dyschondrosteosis Short stature, idiopathic familial Stocco dos Santos X-linked mental retardation syndrome Sucrase-isomaltase deficiency, congenital Amyotrophic lateral sclerosis 16, juvenile Frontotemporal lobar degeneration-motor neuron disease Spinal muscular atrophy, distal, autosomal recessive, 2 Epileptic encephalopathy, early infantile 30 Marinesco-Sjogren syndrome Cataract 45 Deafness, autosomal dominant 23 Branchiootorenal syndrome 3 Branchiootic syndrome 3 Branchiootorenal syndrome 2 Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy Trichohepatoenteric syndrome 2 Bile acid malabsorption, primary Anemia, hypochromic microcytic, with iron overload Bartter syndrome, antenatal, type 1 Gitelman syndrome Epileptic encephalopathy, early infantile, 34 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome) Epileptic encephalopathy, early infantile 25 Blood group, Kidd Hyperinsulinemic hypoglycemia, familial, 7 Erythrocyte lactate transporter defect Monocarboxylate transporter 1 deficiency (AR) Cataract, juvenile, with microcornea and glucosuria Allan-Herndon-Dudley syndrome Infantile sialic acid storage disorder Sialuria, Finnish type (Salla disease) Deafness, autosomal dominant 25 Porokeratosis, disseminated superficial actinic, 8 Thiamine-responsive megaloblastic anemia syndrome Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine responsive) Dicarboxylic aminoaciduria Episodic ataxia, type 6 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Basal ganglia calcification, idiopathic, 1 Hypouricemia, renal 1 Carnitine deficiency, systemic primary Night blindness, congenital stationary, type 1D Ameliogenesis imperfecta, hypomaturation type, IIA5 Combined D-2- and L-2-hydroxyglutaric aciduria Hypomyelination, global cerebral Citrin deficiency Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Thiamine metabolism dysfunction syndrome 4 Microcephaly, Amish type Carnitine-acylcarnitine translocase deficiency Epileptic encephalopathy, early infantile, 3 Combined oxidative phosphorylation deficiency 28 Micochondrial phosphate carrier deficiency Exercise intolerance, riboflavin-responsive Anemia, sideroblastic 2, pyridoxine-refractory Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Neuropathy, hereditary motor and sensory, type VIB Achondrogenesis, type IB Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4 Diarrhea 1, secretory chloride, congenital Deafness, autosomal recessive 4 Deafness, autosomal recessive 61 Spermatogenic failure 3 Ichthyosis prematurity syndrome Histiocytosis-lymphadenopathy plus syndrome GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2 Epilepsy, idiopathic generalized, susceptibility to, 12 Stomatin-deficient cryohydrocytosis with neurologic defects Arterial tortuosity syndrome Fanconi-Bickel syndrome Hypouricemia, renal, 2 Hypermanganesemia with dystonia, polycythemia, and cirrhosis Congenital cataracts, hearing loss, and neurodegeneration Fanconi renotubular syndrome 2 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 Pulmonary alveolar microlithiasis Hypophosphatemic rickets with hypercalciuria, hereditary Congenital disorder of glycosylation, type IIf Congenital disorder of glycosylation, type IIm Arthrogryposis, mental retardation, and seizures Congenital disorder of glycosylation, type IIc Leukocyte adhesion deficiency, type II Schneckenbecken dysplasia Hyperglycinuria Iminoglycinuria Iminoglycinuria, digenic Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id Foveal hypoplasia 2 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Acrodermatitis enteropathica Myopia 24 Congenital disorder of glycosylation, type IIn Cystinuria Hemochromatosis, type 4 Nephronophthisis-like ciliopathy Oculocutaneous albinism, type IV Skin/hair/eye pigmentation 5 Folate malabsorption, hereditary Spherocytosis, type 4 Ovalcytosis, Southeast Asian Cryohydrocytosis Renal tubular acidosis, distal, with hemolytic anemia Renal tubular acidosis, distal, autosomal dominant Blood group, Wright Blood group, Waldner Blood group, Diego Blood group, Froese Blood group, Swann Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine Maternal riboflavin deficiency Brown-Vialetto-Van Laere syndrome 2 Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease Glucose/galactose malabsorption Renal glucosuria Thyroid dyshormonogenesis 1 Neuronopathy, distal hereditary motor, type VIIA Mental retardation, autosomal recessive 48 Hartnup disease Orthostatic intolerance Hyperglycinuria/Iminoglycinuria, modifier of Parkinsonism-dystonia, infantile Hyperekplexia 3 Creatine deficiency syndrome 1 Retinitis pigmentosa 68 Lysinuric protein intolerance Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome) Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Mental retardation, X-linked syndromic, Christianson type Autism susceptibility 16 Statin-induced myopathy Hyperbilirubinemia, Rotor type, digenic Hypertrophic osteoarthropathy, primary, autosomal recessive 2 Primary hypertrophic osteoarthropathy Bleeding disorder, platelet-type, 20 Trichotillomania Tourette syndrome Deafness and myopia Mal de Meleda Fanconi anemia type P Aneurysms-osteoarthritis syndrome Loeys-Dietz syndrome, type 3 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Aortic valve disease 2 Pulmonary hypertension, primary 2 Nicolaides-Baraitser syndrome Rhabdoid tumor predisposition syndrome 2 Adermatoglyphia Schimke immunoosseous dysplasia Schwannomatosis Rhabdoid tumor predisposition syndrome Meningioma, familial, susceptibility to Cornelia de Lange syndrome 2 Heart and brain malformation syndrome Blood group, Vel system Spinal muscular atrophy, type I Spinal muscular atrophy, type II Spinal muscular atrophy, type III Spinal muscular atrophy, type IV Spinal muscular atrophy, modifier of Microphthalmia with limb anomalies Dentin dysplasia, type I Niemann-Pick disease, type A Niemann-Pick disease, type B Deafness, X-linked 4 Mental retardation, X-linked, Snyder-Robinson type Waardenburg syndrome, type 2D Myasthenic syndrome, congenital 18, with intellectual disability and ataxia Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome) Parkinson disease 1 Parkinson disease 4 Dementia with Lewy bodies Parkinson disease Psychomotor retardation, epilepsy, and craniofacial dysmorphism Retinitis pigmentosa 33 Hypotrichosis 11 Long QT syndrome 12 Osteopetrosis, autosomal recessive 8 Spinocerebellar ataxia, autosomal recessive 20 Mental retardation, anterior maxillary protrusion, and strabismus Amyotrophic lateral sclerosis Keratoconus Noonan syndrome 4 Noonan syndrome 9 Craniodiaphyseal dysplasia, autosomal dominant Sclerosteosis 1 van Buchem disease Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Hirschsprung disease, susceptibility to, 10 Mental retardation, autosomal dominant 27 Vesicoureteral reflux 3 Hypotrichosis-lymphedema-telangiectasia syndrome Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Microphthalmia, syndromic 3 Panhypopituitarism, X-linked Lamb-Shaffer syndrome 46, XY sex reversal 10 Campomelic dysplasia Hepatic venoocclusive disease with immunodeficiency Osteogenesis imperfecta, type XII Osteogenesis imperfecta, type XVII Spastic paraplegia 4, autosomal dominant Spermatogenic failure 6 Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related Facial clefting, oblique, 1 Opitz GBBB syndrome, type II Centronuclear myopathy 5 Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11 Spastic paraplegia 20 (Troyer syndrome) Spastic paraplegia 21 (Mast syndrome) Spastic paraplegia 7, autosomal recessive Netherton syndrome Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies Dystonia, Dopa-responsive, due to sepiapterin reductase deficiency Legius syndrome IgA nephropathy, susceptibility to, 3 Hypogonadotropic hypogonadism 17, with or without anosmia Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2 Epileptic encephalopathy, early infantile, 5 Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic Spinocerebellar ataxia 5, autosomal dominant Spinocerebellar ataxia 14, autosomal recessive Neuropathy, hereditary sensory and autonomic, type IA Neuropathy, hereditary sensory and autonomic, type IC Paget disease of bone 3 Thrombocytopenia, autosomal dominant, 6 Floating-Harbor syndrome Steroid 5-alpha-reductase 2 deficiency Kahrizi syndrome Congenital disorder of glycosylation, type Iq Bone marrow failure syndrome 1 Rolandic epilepsy, mental retardation, and speech dyspraxia 46,XY disorder of sex development 46, XX disorder of sex development Congenital disorder of glycosylation, type Iy Resistance to somatostatin treatment Ichthyosis, congenital, autosomal recessive 11 Mental retardation, autosomal recessive 12 Epileptic encephalopathy, early infantile, 15 Ganglioside GM3 synthase deficiency Premature ovarian failure 8 Microcephaly-capillary malformation syndrome Lipoid adrenal hyperplasia Immunodeficiency 31A Immunodeficiency 31B Immunodeficiency 31C Immunodeficiency 44 Hyper-IgE recurrent infection syndrome Autoimmune disease, multisystem, infantile onset Growth hormone insensitivity with immunodeficiency Hypochromic microcytic anemia with iron overload 2 Microcephaly, primary autosomal recessive, 7 Stormorken syndrome Immunodeficiency 10 Peutz-Jeghers syndrome T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations Microphthalmia, syndromic 9 Microphthalmia, isolated, with coloboma 8 Polyhydramnios, megalencephaly, and symptomatic epilepsy Deafness, autosomal recessive 16 Steroid sulfatase deficiency Congenital disorder of glycosylation, type Iw Congenital disorder of glycosylation, type Ix Spinocerebellar ataxia, autosomal recessive 16 Hemophagocytic lymphohistiocytosis, familial, 4 Generalized epilepsy with febrile seizures plus, type 9 Epileptic encephalopathy, early infantile 4 Hemophagocytic lymphohistiocytosis, familial 5 Mitochondrial DNA depletion syndrome 5 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Glutaric aciduria III Multiple sulfatase deficiency Orofacial cleft 10 Sulfocysteinuria Charcot-Marie-Tooth disease type 4K Premature ovarian failure 12 Spermatogenic failure 4 Pregnancy loss, recurrent, 4 Epilepsy, X-linked, with variable learning disabilities and behavior disorders Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8 Emery-Dreifuss muscular dystrophy 5, autosomal dominant Deafness, autosomal recessive, 76 Mental retardation, autosomal dominant 5 Mental retardation, X-linked 96 Spinocerebellar ataxia, autosomal recessive 11 Myasthenic syndrome, congenital 7 Epileptic encephalopathy, early infantile, 18 Chordoma Congenital heart defects, multiple types, 2 Hypogonadotropic hypogonadism Corneal dystrophy, gelatinous drop-like Dystonia 3, torsion, X-linked Mental retardation, X-linked, syndromic 33 Mental retardation, autosomal recessive 40 Spermatogenic failure 13 Transaldolase deficiency Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) Bare lymphocyte syndrome, type I Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia Combined oxidative phosphorylation deficiency 21 Thiourea tasting Phenylthiocarbamide tasting Tyrosinemia, type II 3-Methylglutaconic aciduria, type II (Barth syndrome) Warburg micro syndrome 4 Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome Deafness, autosomal recessive 86 Diabetes mellitus, noninsulin-dependent 5 Macrocephaly/megalencephaly syndrome, autosomal recessive Kenny-Caffey syndrome, type 1 Hypoparathyroidism-retardation-dysmorphism syndrome Herpes simplex encephalitis Mental retardation, autosomal dominant 41 Pierpont syndrome Spinocerebellar ataxia 17 Conotruncal anomaly face syndrome Cousin syndrome Congenital anomalies of the kidney and urinary tract 2 Adrenocorticotropic hormone deficiency Atrial septal defect 4 Cleft palate with or without ankyloglossia Ulnar-Mammary syndrome Small patella syndrome Holt-Oram syndrome Spondylocostal dysostosis 5 Bleeding disorder, platelet-type 13, susceptibility to Ghosal hematodiaphyseal syndrome Cardiomyopathy, dilated, 1N Cardiomyopathy, familial hypertrophic 25 Muscular dystrophy, limb-girdle, type 2G Craniosynostosis 3 Agammaglobulinemia 8, autosomal dominant Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome Osteopetrosis, autosomal recessive 1 Transcobalamin II deficiency Treacher Collins syndrome 1 Joubert syndrome 13 Joubert syndrome 24 Meckel syndrome 8 Joubert syndrome 18 Orofaciodigital syndrome IV (Mohr-Majewski syndrome) Forebrain anomalies Congenital cardiac malformations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Spinocerebellar ataxia, autosomal recessive 23 Cataract, autosomal recessive congenital 4 Sveinsson choreoretinal atrophy Spastic paraplegia 49, autosomal recessive Mental retardation, autosomal recessive 14 Deafness, autosomal recessive 21 Deafness, autosomal dominant 8/12 Venous malformations, multiple cutaneous and mucosal Microphthalmia, isolated, with coloboma 9 Tremor, hereditary essential, 5 Dyskeratosis congenita, autosomal dominant Pulmonary fibrosis and/or bone marrow failure, telomere-related 2 Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1 Spermatogenic failure, X-linked 2 Atransferrinemia Branchiooculofacial sydrome Char syndrome Patent ductus arteriosus, familial, nonsyndromic Hereditary motor and sensory neuropathy, proximal type Spastic paraplegia 57 Hemochromatosis, type 3 Immunodeficiency 46 Thyroid dyshormonogenesis 3 Catel-Manzke syndrome Camurati-Engelmann disease Loeys-Dietz syndrome, type 4 Arrhythmogenic right ventricular dysplasia 1 Loeys-Dietz syndrome 5 (Reinhoff syndrome) Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane Loeys-Dietz syndrome, type 1A Loeys-Dietz syndrome, type 2A Loeys-Dietz syndrome, type 2B Loeys-Dietz syndrome, type 1B Ichthyosis, congenital, autosomal recessive 1 Peeling skin syndrome 2 Spinocerebellar ataxia 35 Segawa syndrome, autosomal recessive Dystonia 6, torsion Thrombophilia due to thrombomodulin defect Hemolytic uremic syndrome, atypical, susceptibility to, 6 Mental retardation, X-linked 12 Thrombocythemia 1 Hypothyroidism, congenital, nongoitrous, 6 Thyroid hormone resistance, general Thyroid hormone resistance, selective pituitary Welander distal myopathy Herpes simplex encephalitis, susceptibility to, 4 Opticoacoustic nerve atrophy with dementia Jensen syndrome Mohr-Tranebjaerg syndrome Sorsby fundus dystrophy Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome Cholestasis, progressive familial intrahepatic 4 Mitochondrial DNA depletion syndrome 2 Preimplantation embryonic lethality Atrial septal defect 6 Herpes simplex encephalitis, susceptibility to, 2 Deafness, autosomal recessive 7 Epidermodysplasia verruciformis Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Optic atrophy 7 Joubert syndrome 16 Congenital disorder of glycosylation, type IIk STING-associated vasculopathy, infantile-onsent (SAVI) Congenital disorder of glycosylation, type IIp Joubert syndrome 2 Meckel syndrome 2 Joubert syndrome 20 Meckel syndrome 11 Joubert syndrome 14 Spinocerebellar ataxia 21 Osteogenesis imperfecta, type XIV Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 Nephronophthisis 11 Meckel syndrome 3 Joubert syndrome 6 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Nanophthalmos 4 Deafness, autosomal recessive 6 Epsilon-trimethyllysine hydroxylase deficiency Cardiomyopathy, dilated, 1T Enterokinase deficiency Deafness, autosomal recessive 10 Deafness, autosomal recessive 8 Iron-refractory iron deficiency anemia Deafness, autosomal dominant 56 Autoinflammatory syndrome, familial, Behcet-like Squamous cell carcinoma, head and neck Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7 Paget disease of bone 5, juvenile Immunoglobulin A deficiency 2 Common variable immunodeficiency 2 Immunodeficiency, common variable 4 Periodic fever, familial (TNF receptor-associated periodic syndrome) Immunodeficiency 16 Osteopetrosis, autosomal recessive 2 Cardiomyopathy, familial hypertrophic 13 Cardiomyopathy, dilated, 1Z Arthrogryposis multiplex congenita, distal, type 2B Cardiomyopathy, familial hypertrophic 7 Cardiomyopathy, dilated 1FF Cardiomyopathy, dilated, 2A Cardiomyopathy, familial restrictive Cardiac conduction disease with or without dilated cardiomyopathy Nemaline myopathy 5 Cardiomyopathy, familial restrictive, 3 Cardiomyopathy, dilated, 1D Left ventricular noncompaction 6 Cardiomyopathy, familial hypertrophic, 2 Muscular dystrophy, limb-girdle, type 1F Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency Retitinis pigmentosa 31 Dystonia 1, torsion Li-Fraumeni syndrome Choroid plexus papilloma Ependymoma, intracranial Osteogenic sarcoma Breast cancer, familial Hepatoblastoma Non-Hodgkin lymphoma Adrenocortical carcinoma Colorectal cancer Split-hand/foot malformation 4 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Limb-mammary syndrome Rapp-Hodgkin syndrome Orofacial cleft 8 ADULT syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate Skin/hair/eye pigmentation, variation in, 10 Triosephosphate isomerase deficiency Thiamine metabolism dysfunction syndrome 5 Cardiomyopathy, dilated, 1Y Cardiomyopathy, familial hypertrophic, 3 Nemaline myopathy 4 CAP myopathy Arthrogryposis, distal, type 1A Arthrogryposis, distal, type 2B Nemaline myopathy 1, autosomal dominant Thiopurine S-methyltransferase deficiency Thyroid dyshormonogenesis 2A Ceroid lipofuscinosis, neuronal, 2 Spinocerebellar ataxia, autosomal recessive 7 Deafness, autosomal recessive 79 T-cell receptor-alpha/beta deficiency Herpes simplex encephalitis, susceptibility to, 3 Senior-Loken syndrome 9 Candidiasis, familial 8 Seckel syndrome 9 Congenital abnormalities of the kidney and urinary tract VACTERL association Limb-girdle muscular dystrophy, type 2S Spondyloepiphyseal dysplasia tarda, X-linked Mental retardation, autosomal recessive 13 Mitochondrial DNA depletion syndrome 1 (MNGIE type) Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Nasu-Hakola disease Early-onset dementia without bone cysts Chilblain lupus 1 Vasculopathy, retinal, with cerebral leukodystrophy Aicardi-Goutieres syndrome 1 Thyrotropin-releasing hormone resistance, generalized Charcot-Marie-Tooth disease, axonal, type 2R Muscular dystrophy, limb-girdle, type 2H Bardet-Biedl syndrome 11 Mulibrey nanism Deafness, autosomal recessive 28 Achondrogenesis, type IA Spinal muscular atrophy with congenital bone fractures 1 (AR) Microcephaly, short stature, and impaired glucose metabolism 1 Combined oxidative phosphorylation deficiency 26 Liver failure, infantile, transient Reversible infantile respiratory chain deficiency Deafness, nonsyndromic, sensorineural Hypertension, hypercholesterolemia, and hypomagnesemia (Maternal) Parkinson disease, mitochondrial Retinitis pigmentosa-deafness syndrome Mitochondrial myopathy, lethal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Episodic pain syndrome, familial Spinocerebellar ataxia 41 Focal segmental glomerulosclerosis 2 Night blindness, congenital stationary, type 1C Progressive familial heart block, type IB Hypomagnesemia 1, intestinal Trichorhinophalangeal syndrome, type I Trichorhinophalangeal syndrome, type III Olmsted syndrome Palmoplantar keratoderma, nonepidermolytic focal 2 Spinal muscular atrophy, distal, congenital nonprogressive Brachyolmia type 3 Metatropic dysplasia Spondyloepiphyseal dysplasia, Maroteaux type Scapuloperoneal spinal muscular atrophy Hereditary motor and sensory neuropathy, type Iic Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Digital arthropathy-brachydactyly, familial Tuberous sclerosis Lymphangioleiomyomatosis Tuberous sclerosis 2 Pontocerebellar hypoplasia type 2B Pontocerebellar hypoplasia type 2C Pontocerebellar hypoplasia, type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 Combined oxidative phosphorylation deficiency 3 Hypothyroidism, congenital, nongoitrous, 4 Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1 Aural atresia, congenital Exudative vitreoretinopathy 5 Retinal dysplasia and severe familial exudative vitreoretinopathy Mental retardation, X-linked 58 Deafness, autosomal recessive 98 Sudden infant death with dysgenesis of the testes syndrome Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Spinocerebellar ataxia 11 Mitochondrial complex III deficiency, nuclear type 2 Nephronophthisis 12 Short-rib thoracic dysplasia 4 with or without polydactyly Trichohepatoenteric syndrome 1 Gastrointestinal defects and immunodeficiency syndrome Bardet-Biedl syndrome 8 Retinitis pigmentosa 51 Mental retardation, autosomal recessive 39 Cone-rod dystrophy 19 Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G Ataxia with isolated vitamin E deficiency Amyloidosis, hereditary, transthyretin-related Dystransthyretinemic hyperthyroxinemia Retinal dystrophy and obesity Lissencephaly 3 Amyotrophic lateral sclerosis 22 Polymicrogyria with optic nerve hypoplasia Congenital symmetric circumferential skin creases 1 Cortical dysplasia, complex, with other brain malformations 6 Macrothrombocytopenia, autosomal dominant, TUBB1-related Cortical dysplasia, complex, with other brain malformations 5 Polymicrogyria, asymmetric Cortical dysplasia, complex, with other brain malformations 1 Fibrosis of extraocular muscles, congenital, 3A Dystonia 4, torsion, autosomal dominant Leukodystrophy, hypomyelinating, 6 Oocyte maturation defect 2 Cortical dysplasia, complex, with other brain malformations 4 Microcephaly and chorioretinopathy, autosomal recessive 3 Microcephaly and chorioretinopathy, autosomal recessive 1 Combined oxidative phosphorylation deficiency 4 Leber congenital amaurosis 15 Retinitis pigmentosa 14 Mental retardation, autosomal recessive 7 Saethre-Chotzen syndrome Robinow-Sorauf syndrome Craniosynostosis, type 1 Ablepharon-macrostomia syndrome Barber-Say syndrome Focal facial dermal dysplasia 3, Setleis type Combined oxidative phosphorylation deficiency 29 Burn-McKeown syndrome Immunodeficiency 35 Albinism, oculocutaneous, type IA Albinism, oculocutaneous, type IB Albinism, oculocutaneous, type III Spinal muscular atrophy, X-linked 2, infantile Mental retardation, X-linked, syndromic, Nascimento-type Fanconi anemia, complementation group T Angelman syndrome Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome) Corneal dystrophy, crystalline, of Schnyder Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Johanson-Blizzard syndrome Parkinson disease 5, autosomal dominant Neurodegeneration with optic atropy, childhood-onset Hip dysplasia, Beukes type Crigler-Najjar syndrome, type I Crigler-Najjar syndrome, type II Gilbert syndrome Familial juvenile hyperuricemic nephropathy Glomerulocystic kidney disease with hyperuricemia and isosthenuria Orotic aciduria Immunodeficiency 13 Hemophagocytic lymphohistiocytosis, familial 3 Cataract 43 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Herpes simplex encephalitis, susceptibility to, 1 Immunodeficiency with hyper-IgM, type 5 Beta-ureidopropionase deficiency Mental retardation, X-linked, syndromic 14 Renal/urogenital adysplasia Mitochondrial complex III deficiency, nuclear type 7 Mitochondrial complex III deficiency, nuclear type 9 Mitochondrial complex III deficiency Mitochondrial Complex III Deficiency, nuclear type 5 Urocanase deficiency Porphyria, hepatoerythropoietic Porphyria cutanea tarda Porphyria, congenital erythropoietic Poikiloderma with neutropenia Usher syndrome, type IC Deafness, autosomal recessive 18A Usher syndrome, type 1G Usher syndrome, type 2A Mental retardation, X-linked 99 Mental retardation, X-linked 99, syndromic, female restricted Spermatogenic failure, Y-linked, 2 North American Indian childhood cirrhosis UV-sensitive syndrome 3 Spastic ataxia 1, autosomal dominant Caudal regression syndrome Neural tube defects Amyotrophic lateral sclerosis 8 Spinal muscular atrophy, late-onset, Finkel type Combined oxidative phosphorylation deficiency 20 Microphthalmia, syndromic 11 Wagner syndrome 1 Cardiomyopathy, familial hypertrophic 15 Cardiomyopathy, dilated, 1W Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Charcot-Marie-Tooth disease type, axonal type, 2Y Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 Vitamin D-dependent rickets, type 2A Lymphedema, hereditary, ID Von Hippel Lindau Erythrocytosis, familial, 2 (Chuvash polycythemia) Cataract 30 Arthrogryposis, renal dysfunction, and cholestasis 2 Vitamin K-dependent clotting factors, combined deficiency of, 2 Drug metabolism, VKORC1-related Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 Myopathy, X-linked, with excessive autophagy Leukodystrophy, hypomyelinating 12 Choreoacanthocytosis Cohen syndrome Parkinson disease 23, autosomal recessive, early onset Parkinson disease 17 Spastic paraplegia 53, autosomal recessive Neutropenia, neutrophil dysfunction, bone marrow fibrosis, and nephromegaly Pontocerebellar hypoplasia, type 2E Pontocerebellar hypoplasia type 1A Craniofacial anomalies and anterior segment dysgenesis syndrome Keratoconus 1 Corneal dystrophy, posterior polymorphous Microphthalmia, isolated 2 Microphthalmia, isolated, with coloboma 3 Spinocerebellar ataxia, autosomal recessive 22 von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3 DeSanto-Shinawi syndrome Wiskott-Aldrich syndrome Thrombocytopenia 1 Neutropenia, severe congenital, X-linked Bardet-Biedl syndrome 15 Congenital heart defects, hamartomas of tongue, and polysyndactyly Meckel-Gruber syndrome type 6, modifier of Kallmann syndrome Short-rib thoracic dysplasia 5 with or without polydactyly Cranioectodermal dysplasia 4 Nephronophthisis 13 Retinitis pigmentosa Senior-Loken syndrome 8 Short -rib thoracic dysplasia 11 with or without polydactyly Cranioectodermal dysplasia 2 Short -rib thoracic dysplasia 7 with or without polydactyly Neurodegeneration with brain iron accumulation 5 Short -rib thoracic dysplasia 8 with or without polydactyly Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Amelogenesis imperfecta, hypomaturation type, IIA3 Galloway-Mowat syndrome Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Wolfram syndrome Usher syndrome, type 2D Deafness, autosomal recessive 31 Wiskott-Aldrich syndrome 2 Spondyloepiphyseal dysplasia tarda with progressive arthropathy Arthropathy, progressive pseudorheumatoid, of childhood Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA Pseudohypoaldosteronism, type IIB Osteoprosis, autosomal dominant Osteogenesis imperfecta, type XV Odontoonychodermal dysplasia Schopf-Schulz-Passarge syndrome Tooth agenesis, selective, 4 Split-hand/foot malformation 6 Tetraamelia, autosomal recessive Mullerian aplasia and hyperandrogenism 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL syndrome) Robinow syndrome, autosomal dominant Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome Fuhrmann syndrome Dyskeratosis congenita, autosomal recessive 3 Werner syndrome Denys-Drash syndrome Wilms tumor, type 1 Frasier syndrome Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12 Xanthinuria, type I XG blood group Lymphoproliferative syndrome, X-linked, 2 X-inactivation, familial skewed, 1 McLeod syndrome Xeroderma pigmentosum, group A Xeroderma pigmentosum, group C Angioedema induced by ACE inhibitors, susceptibility to Nephronophthisis-like nephropathy 1 Basal ganglia calcification, idiopathic, 6 Short stature, microcephaly, and endocrine dysfunction Desbuquois dysplasia 2 Ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation Charcot-Marie-Tooth disease, dominant intermediate C Myopathy, lactic acidosis, and sideroblastic anemia 2 Split-foot malformation with mesoaxial polydactyly Selective T-cell defect Skeletal defects, genital hypoplasia, and mental retardation Mental retardation, autosomal dominant 22 Primrose syndrome Immunodeficiency-Centromeric Instability-Facial Anomalies 2 Lethal congenital contracture syndrome 6 Mental retardation, X-linked 91 Mental retardation, X-linked syndromic, Raymond type Corneal dystrophy, Fuchs endothelial 6 Corneal dystrophy, posterior polymorphous, 3 Mowat-Wilson syndrome Diabetes mellitus, transient neonatal, 1 46,XY sex reversal 9 Spastic paraplegia 15 Spastic paraplegia 33, autosomal dominant Craniosynostosis 6 Holoprosencephaly 5 Congenital heart defects, nonsyndromic, 1, X-linked Heterotaxy, visceral, 1, X-linked VACTERL association, X-linked, with or without hydrocephalus Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal Ciliary dyskinesia, primary, 22 Mental retardation, autosomal domianant, 30 Spermatogenic failure 14 Postaxial polydactyly type A, autosomal recessive Microcephaly 10, primary, autosomal recessive Exudative vitreoretinopathy 6 Retinitis pigmentosa 72 Mental retardation, X-linked 89 Joubert syndrome 19 Nephronophthisis 14 Brittle cornea syndrome 1 Retinitis pigmentosa 58 Spinocerebellar ataxia, autosomal recessive 5 Myopia 21, autosomal dominant Mental retardation, X-linked 92 Paget disease of bone 6 Mental retardation, X-linked 97 Seborrhea-like dermatitis with psoriasiform elements Mental retardation, X-linked 45 Oocyte maturation defect 1 Acromelic frontonasal dysostosis
CGD MANIFESTATION	General Hematologic Dermatologic Endocrine Gastrointestinal Neurologic Ophthalmologic Audiologic/Otolaryngologic Biochemical Cardiovascular Musculoskeletal Obstetric Pulmonary Craniofacial Oncologic Allergy/Immunology/Infectious Renal Genitourinary Dental
HGMD

Example of genotype information:

0/1:0.45:10,12:22:99:211,0,262

GT:AB:AD:DP:GQ:PL

GT: Genotype

Genotype, encoded as allele values separated by either of ”/” or “|”. The allele values are 0 for the reference allele (what is in the REF field), 1 for the first allele listed in ALT, 2 for the second allele list in ALT and so on. For diploid calls examples could be 0/1, 1|0, or 1/2, etc. For haploid calls, e.g. on Y, male non-pseudoautosomal X, or mitochondrion, only one allele value should be given; a triploid call might look like 0/0/1. If a call cannot be made for a sample at a given locus, ”.” should be specified for each missing allele in the GT field (for example "./." for a diploid genotype and "." for haploid genotype). The meanings of the separators are as follows (see the PS field below for more details on incorporating phasing information into the genotypes)

AB: Allele balance for each het genotype

The allele balance (fraction of ref bases over ref + alt bases) across all bialleleic het-called samples

AD: Allelic depths for the ref and alt alleles in the order listed

The depth of coverage of each VCF allele in this sample.

DP: Read Depth (only filtered reads used for calling) GQ: Genotype Quality

Conditional genotype quality, encoded as a phred quality -10log_10p(genotype call is wrong, conditioned on the site's being variant) (Float)

PL: Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification

The phred-scaled genotype likelihoods rounded to the closest integer (and otherwise defined precisely as the GL field) (Integers)