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40105 hard-filtered gvcf
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40105 hard-filtered gvcf
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RECESSIVE HOMOZYGOUS
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CLINICAL GENOMICS DATABASE:
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
HGMD:
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
EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER