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Israeli Medical Genetic Database
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The Faculty of Medicine
Israeli Medical Genetic Database
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עברית
Israeli Medical Genetic Database
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Disease
3MC syndrome 3
Cutis laxa, autosomal recessive, type IIIA
17-alpha-hydroxylase/17,20-lyase deficiency
2,4-dienoyl-CoA reductase deficiency
2-methylbutyrylglycinuria
3-hydroxyisobutryl-CoA hydrolase deficiency
3-M syndrome 1
3MC syndrome 1
3MC syndrome 2
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria with deafness, encephalopathy
3-methylglutaconic aciduria, type IX
3-Phosphoglycerate dehydrogenase deficiency
46XY sex reversal 3
Aarskog syndrome, X-linked
ABCD syndrome
Abetalipoproteinemia
Achalasia
Achondrogenesis Ib
Achondrogenesis, type IA
Achromatopsia 2 (total color blindness)
Achromatopsia 3 (total color blindness)
Achromatopsia 7
Acid-labile subunit deficiency
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute intermittent porphyria
Acyl CoA dehydrogenase deficiency, short/branched chains
Acyl-CoA dehydrogenase, very long chain deficiency
Adams Oliver syndrome
Adenine phosphoribosyltransferase deficiency
Adenylsuccinase deficiency
Adrenal hyperplasia 3 beta hydroxydehydrogenase
Adrenal hyperplasia III (21 OH deficiency)
Adrenal hyperplasia IV (11-ß hydroxylase deficiency)
Adrenal hypoplasia, X-linked
Adrenocorticotropic hormone deficiency
Adrenoleukodystrophy, X linked
Adult polyglucosan body disease, Glycogen storage disease type IV
Afibrinogenemia congenital
Agammaglobulinemia 4
Agammaglobulinemia 7, autosomal recessive
Agammaglobulinemia, X linked
Agenesis of corpus callosum, retinopathy, and deafness
Agenesis of the corpus callosum with facial anomalies and cerebellar ataxia
Aicardi Goutieres syndrome 2
Aicardi Goutieres syndrome 5
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 6
Alacrima, achalasia, and mental retardation syndrome
Alazami syndrome
Albinism, oculocutaneous type 1
Albinism, oculocutaneous type 2
Albinism, oculocutaneous type 4
Albinism, oculocutaneous, type III
Albinism, oculocutaneous, type VI
Albinism, oculocutaneous, type VII
Alexander disease, AD
Alkaptonuria
Alkuraya-Kucinskas syndrome
Alopecia neurological defect and endocrinopathy syndrome
Alopecia-intellectual disability syndrome 4
Alopecia-mental retardation syndrome 1
Alpha-methylacetoacetic aciduria
Alpha-methylacyl-CoA racemase deficiency
Alport syndrome, AR
Alport syndrome, X-linked
Alstrom syndrome
AMED syndrome, digenic
Amelogenesis imperfecta
Amyloidosis, hereditary, transthyretin-related, AD
Amyotrophic lateral sclerosis 12
Amyotrophic lateral sclerosis 2, juvenile
Anauxetic dysplasia 2
Anemia, hypochromic microcytic, with iron overload 1
Anemia, sideroblastic, 2, pyridoxine-refractory
Angioedema, hereditary AD, type III
Aniridia, AD
Anonychia congenita
Anterior segment dysgenesis 7, with sclerocornea
Anterior segment dysgenesis 8
Apparent mineralocorticoid excess
Argininemia
Argininosuccinic aciduria
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia 9, AD
Arterial tortuosity syndrome
Arthrogryposis multiplex congenita, myogenic type
Arthrogryposis multiplex congenita, neurogenic type
Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome 1
Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome 2
Arthrogryposis, distal, type 5D
Arthrogryposis, mental retardation, and seizures
Arthropathy, progressive pseudorheumatoid, of childhood
Asparagine synthetase deficiency
Aspartylglucosaminuria
Ataxia telangiectasia
Ataxia telangiectasia like disorder
Ataxia with oculomotor apraxia
Ataxia, spastic
Atrichia, with papular lesions
Attention deficit-hyperactivity disorder 8
Auditory neuropathy and optic atrophy
autism spectrum and hereditary spastic paraparesis
Autoimmune disease, multisystem, infantile-onset, 2
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
Autoinflammation, lipodystrophy, and dermatosis syndrome
Autoinflammation, panniculitis, and dermatosis syndrome
autosomal recessive muscular dystrophy
Autosomal recessive polycystic kidney disease (ARPKD)
Azoospermia
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bare lymphocyte syndrome, type II, complementation group A
Bartter syndrome, infantile variant with sensorineuronal deafness
Bartter syndrome, type 1
Bartter syndrome, type 2
Bartter syndrome, type 3
Basal ganglia calcification, idiopathic, 7, autosomal recessive
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes syndrome
Benign ethnic neutropenia
Bernard Soulier syndrome
Best disease
Bethlem myopathy 2
Bietti crystalline corneoretinal dystrophy
Bile acid synthesis defect, congenital, 6
Biliary, renal, neurologic, and skeletal syndrome
Biotinidase deficiency
Birk Barel Mental retardation dysmorphism AD syndrome
Birk Landau Perez syndrome
Bleeding disorder, platelet-type, 17
Bleeding disorder, platelet-type, 18
Bloom syndrome
Bone marrow failure syndrome 2
Bone marrow failure syndrome 4
Bone marrow failure unresponsive to bone marrow transplant
Boucher-Neuhauser syndrome
Brachydactyly type 2
Bradyopsia
Breast and ovarian cancer, AD predisposition
Breast and ovarian cancer, AD predisposition 1
Breast and ovarian cancer, AD predisposition 2
Breast cancer, risk factor 2
Breasts and/or nipples, aplasia or hypoplasia
Brittle cornea syndrome
Brown-Vialetto-Van Laere syndrome
Bruck syndrome
Bruck syndrome 2
Brunet-Wagner neurodevelopmental syndrome
Burn-McKeown syndrome
C1q deficiency
C3 deficiency
C6 deficiency
C8 deficiency, type II
Calcinosis, tumoral with hyperphosphatasemia
Canavan disease
Capillary malformation with limb enlargment
Cardiac valvular defect, developmental
Cardiac valvular dysplasia 2
Cardio-cutaneous syndrome
Cardiofacioneurodevelopmental syndrome
Cardiomyopathy dilated 1G
Cardiomyopathy dilated and left ventricular non-compaction
Cardiomyopathy dilated with septo optic dysplasia
Cardiomyopathy dilated, neonatal isolated
Cardiomyopathy, dilated, 1MM AD
Cardiomyopathy, dilated, 2A
Cardiomyopathy, dilated, 2C
Cardiomyopathy, dilated, 2I
Cardiomyopathy, familial hypertrophic 27
Cardiomyopathy, familial restrictive 5
Carey-Fineman-Ziter syndrome
Carnitine deficiency, systemic primary
Carnitine Palmitoyl transferase deficiency
Carnitine Palmitoyl transferase deficiency II, infantile
Carnitine-acylcarnitine translocase deficiency
Cartilage hair hypoplasia
Carvajal syndrome
Cataract 22
Cataracts 13, autosomal recessive
Cataracts 17, autosomal recessive
Cataracts 18, autosomal recessive
Cataracts 19, autosomal recessive
Cataracts 9, autosomal recessive
Catel-Manzke syndrome
Cenani-Lenz syndactyly syndrome
Central core disease
Centronuclear myopathy 5
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome AD
Cerebellar atrophy with seizures and variable developmental delay
Cerebellofaciodental syndrome
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
Cerebral cavernous malformations, AD
Cerebral creatine deficiency syndrome XL
Cerebral creatine deficiency
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral palsy, spastic quadriplegic, 3
Cerebroretinal microangiopathy with calcifications and cysts
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis, neuronal, 1
Ceroid lipofuscinosis, neuronal, 13
Ceroid lipofuscinosis, neuronal, 2
Ceroid lipofuscinosis, neuronal, 3
Ceroid lipofuscinosis, neuronal, 5
Ceroid lipofuscinosis, neuronal, 6
Ceroid lipofuscinosis, neuronal, 7
Ceroid lipofuscinosis, neuronal, 8
Chanarin Dorfman
Charcot-Marie-Tooth disease AD, axonal, type 2F
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease, axonal, type 2A2B
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, type 2T
Charcot-Marie-Tooth disease, type 1F
Charcot-Marie-Tooth disease, type 2R
Charcot-Marie-Tooth disease, type 4B3
Cholestasis, benign recurrent intrahepatic, 2
Cholestasis, intrahepatic, of pregnancy, 1
Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 4
Cholestasis, progressive familial intrahepatic, 8
Chorea, childhood-onset, with psychomotor retardation
Choreoacanthocytosis
Chronic granulomatous disease 1, autosomal recessive
Chronic granulomatous disease 2, autosomal recessive
Chronic granulomatous disease 4, autosomal recessive
Chronic hemolysis and childhood relapsing immune mediated polyneuropathy
Chudley-McCullough syndrome
Ciliary dyskinesia, primary, 1
Ciliary dyskinesia, primary, 11
Ciliary dyskinesia, primary, 12
Ciliary dyskinesia, primary, 13
Ciliary dyskinesia, primary, 14
Ciliary dyskinesia, primary, 15
Ciliary dyskinesia, primary, 16
Ciliary dyskinesia, primary, 17
Ciliary dyskinesia, primary, 18
Ciliary dyskinesia, primary, 19
Ciliary dyskinesia, primary, 2
Ciliary dyskinesia, primary, 20
Ciliary dyskinesia, primary, 21
Ciliary dyskinesia, primary, 22
Ciliary dyskinesia, primary, 25
Ciliary dyskinesia, primary, 26
Ciliary dyskinesia, primary, 27
Ciliary dyskinesia, primary, 28
Ciliary dyskinesia, primary, 29
Ciliary dyskinesia, primary, 3
Ciliary dyskinesia, primary, 30
Ciliary dyskinesia, primary, 32
Ciliary dyskinesia, primary, 35
Ciliary dyskinesia, primary, 38
Ciliary dyskinesia, primary, 42
Ciliary dyskinesia, primary, 46
Ciliary dyskinesia, primary, 5
Ciliary dyskinesia, primary, 52
Ciliary dyskinesia, primary, 7
Ciliary dyskinesia, primary, 9
Citrullinemia
Citrullinemia, type II, adult-onset
Citrullinemia, type II, neonatal-onset
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft palate, proliferative retinopathy, and developmental delay
Cockayne syndrome, type A
Cockayne syndrome, type B
CODAS syndrome
Coenzyme Q10 deficiency, primary, 4
Coenzyme Q10 deficiency, primary, 7
Coenzyme Q10 deficiency, primary, 9
Cohen syndrome
Cold-induced sweating syndrome
Cold-induced sweating syndrome 3
Colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Colorectal cancer
Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 4
Colorectal cancer, hereditary nonpolyposis, type 5
Colorectal cancer, susceptibility to, 10
Combined malonic aciduria and methylmalonic aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria
Combined immunodeficiency, X-linked
Combined oxidative phosphorylation deficiency 1
Combined oxidative phosphorylation deficiency 11
Combined oxidative phosphorylation deficiency 13
Combined oxidative phosphorylation deficiency 14
Combined oxidative phosphorylation deficiency 2
Combined oxidative phosphorylation deficiency 20
Combined oxidative phosphorylation deficiency 23
Combined oxidative phosphorylation deficiency 24
Combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency 35
Combined oxidative phosphorylation deficiency 4
Combined oxidative phosphorylation deficiency 42
Combined oxidative phosphorylation deficiency 44
Combined oxidative phosphorylation deficiency 52
Combined oxidative phosphorylation deficiency 54
Combined oxidative phosphorylation deficiency 7
Complement C7 deficiency
Complement factor I deficiency
Complex hereditary spastic paraparesis
Complex hereditary spastic paraparplegia
Cone dystrophy 4
Cone rod degeneration accompanied by sensorineural hearing loss
Cone rod dystrophy 12
Cone rod dystrophy 15, Retinitis pigmentosa 65
Cone rod dystrophy 18
Cone rod dystrophy 3
Cone rod dystrophy 6
Cone rod dystrophy 9
Cone rod dystrophy XL, 3
Cone rod synaptic disorder, congenital nonprogressive
Cone-rod dystrophy 13
Cone-rod dystrophy 16
Cone-rod dystrophy 19
Cone-rod dystrophy and hearing loss 2
Congenital absence of alpha fetoprotein
Congenital Adrenal Insufficiency with 46,XY Sex Reversal
Congenital amegakaryotic thrombocytopenia
Congenital analbuminemia
Congenital diarrhea and various endocrinopathies
Congenital disorder of deglycosylation, NGLY1 related
Congenital disorder of glycosylation, type Id
Congenital disorder of glycosylation, type Ie
Congenital disorder of glycosylation, type If
Congenital disorder of glycosylation, type Ih
Congenital disorder of glycosylation, type IIa
Congenital disorder of glycosylation, type IIc
Congenital disorder of glycosylation, type IId
Congenital disorder of glycosylation, type IIk
Congenital disorder of glycosylation, type IIl
Congenital disorder of glycosylation, type Ik
Congenital disorder of glycosylation, type Im
Congenital disorder of glycosylation, type Iq
Congenital disorder of glycosylation, type Iw
Congenital heart defects, vertebral abnormalities and preaxial polydactyly
Congenital hyperammonemia, type 1
Congenital insensitivity to pain (CIP)
Congenital insensitivity to pain with anhidrosis (CIPA)
congenital interstitial lung disease
Congenital lipoid adrenal hyperplasia
Congenital lymphedema, intestinal lymphangiectasia and cutis aplasia, AR
Congenital myopathy 2B, severe infantile, autosomal recessive
Congenital myopathy 3 with rigid spine
Congenital myopathy 4B, autosomal recessive
Congenital short bowel syndrome
Congenital pancreatic lipase deficiency
Conotruncal heart malformations
Convulsions, familial infantile, with paroxysmal choreoathetosis
Corneal dystrophy and perceptive deafness
Cortical dysplasia, complex, with other brain malformations 11
Cortical dysplasia, complex, with other brain malformations 12
Cortical dysplasia, complex, with other brain malformations 9
Corticosteroid-binding globulin deficiency
Corticosterone methyl oxidase II deficiency (congenital hypoaldosteronism)
Costeff syndrome (3-Methyl glutaconic aciduria, type III)
craniofacial anomalies,congenital malformations and developmental delay
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Creutzfeld-Jakob disease, AD
Crigler-Najjar syndrome, type I
Cutis laxa, autosomal recessive, type IA
Cutis laxa, autosomal recessive, type IC
Cutis laxa, autosomal recessive, type IIA
Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive, type IID
Cystic fibrosis
Cystinosis
Cystinuria
D-2-hydroxyglutarate dehydrogenase gene
D-bifunctional protein deficiency
Deafness , autosomal recessive 86
Deafness and peripheral neuropathy
Deafness autosomal recessive 106
Deafness, autosomal recessive 110
Deafness, autosomal recessive 111
Deafness, autosomal recessive 113
Deafness, autosomal recessive 119
Deafness, autosomal recessive 12
Deafness, autosomal recessive 15
Deafness, autosomal recessive 16
Deafness, autosomal recessive 18B
Deafness, autosomal recessive 1A
Deafness, autosomal recessive 2
Deafness, autosomal recessive 21
Deafness, autosomal recessive 22
Deafness, autosomal recessive 24
Deafness, autosomal recessive 28
Deafness, autosomal recessive 29
Deafness, autosomal recessive 3
Deafness, autosomal recessive 30
Deafness, autosomal recessive 31
Deafness, autosomal recessive 32, with or without immotile sperm
Deafness, autosomal recessive 35
Deafness, autosomal recessive 36
Deafness, autosomal recessive 37
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Deafness, autosomal recessive 42
Deafness, autosomal recessive 49
Deafness, autosomal recessive 59
Deafness, autosomal recessive 63
Deafness, autosomal recessive 67
Deafness, autosomal recessive 68
Deafness, autosomal recessive 7
Deafness, autosomal recessive 76
Deafness, autosomal recessive 77
Deafness, autosomal recessive 8/10
Deafness, autosomal recessive 84A
Deafness, autosomal recessive 84B
Deafness, autosomal recessive 9
Deafness, autosomal recessive 93
Deafness, autosomal recessive POU4F3 reated
Deafness, mitochondrial
Deafness, SLC25A21 related
DEEAH syndrome
Dejerine-Sottas disease
deletion 21q22.11q22.12
Dental anomalies and short stature
Desbuquois Dysplasia
Desmosterolosis
development delay
Developmental and epileptic encephalopathy 101
Developmental and epileptic encephalopathy 106
Developmental and epileptic encephalopathy 115
Developmental and epileptic encephalopathy 31
Developmental and epileptic encephalopathy 44
Developmental and epileptic encephalopathy 61
Developmental and epileptic encephalopathy 71
Developmental and epileptic encephalopathy 75
Developmental and epileptic encephalopathy 80
Developmental delay and polyneuropathy
Developmental delay with short stature, dysmorphic facial features, and sparse hair
Developmental dysplasia of the hip
D-glyceric aciduria
Diabetes insipidus, nephrogenic
Diabetes mellitus, early-onset insulin-requiring XL
Diabetes mellitus, neonatal, with congenital hypothyroidism
Diaphonospondylodysostosis
Diarrhea 1, secretory chloride, congenital
Diarrhea 10, protein-losing enteropathy type
Diarrhea 5, with tufting enteropathy, congenital
Diarrhea 7
Diarrhea, intractable congenital
Dihydrolipoamide Dehydrogenase Deficiency
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy with left ventricular non-compaction
Dilated cardiomyopathy
DIRA syndrome
Disphosphoglycerate mutase deficiency
Distal renal tubular acidosis 2 with progressive sensorineural hearing loss
D-lactic aciduria
Donohue syndrome
Dowling-Degos disease, AD
Dubin-Johnson syndrome
Dundar syndrome adducted thumbs and clubfeet
Dworschak-Punetha neurodevelopmental syndrome
Dysautonomia, familial
Dyserythropoietic anemia, congenital, type Ia
Dyserythropoietic anemia, congenital, type II
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 4
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 7
Dyskeratosis congenita, XL
Dyskinesia, familial, with facial myokymia
Dyskinesia, limb and orofacial, infantile-onset
Dyskinesia, seizures, and intellectual developmental disorder
Dystonia primary torsion
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 13, hair/tooth type
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Ectodermal dysplasia, skin fragility
Ectopia lentis
Ectrodactyly and macular dystrophy
Ehlers-Danlos syndrome type VII-C
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Ehlers-Danlos syndrome, musculocontractural type 2
Ellis-van Creveld syndrome
Emery Dreifuss muscular dystrophy, XLR
Encephalopathy, acute, infection-induced, susceptibility to, 9
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
Enhanced S cone syndrome
Epidermodysplasia verruciformis, susceptibility to, 5
Epidermolysis bullosa, pyloric atresia and aplasia cutis congenita (Carmi syndrome)
Epidermolysis bullosa dystrophica, AR
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
Epidermolysis bullosa simplex, AR KRT14 related
Epidermolysis bullosa simplex, autosomal recessive 2
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa, AD dystrophic
Epidermolysis bullosa, junctional 3B, severe
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, lethal acantholytic
Epidermolytic ichthyosis
Epilepsy and intellectual disability
Epilepsy and mental retardation limited to females, XL
Epilepsy, familial temporal lobe AD, 1
Epilepsy, generalized, with febrile seizures plus
Epilepsy, intractable of infancy
Epilepsy, myoclonic, familial adult, 2; AD
Epilepsy, progressive myoclonic 1B
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
Epilepsy, progressive myoclonic 4
Epilepsy, pyridoxine-dependent
Epileptic encephalopathy, early infantile, 12
Epileptic encephalopathy, early infantile, 15
Epileptic encephalopathy, early infantile, 16
Epileptic encephalopathy, early infantile, 18
Epileptic encephalopathy, early infantile, 23
Epileptic encephalopathy, early infantile, 25
Epileptic encephalopathy, early infantile, 28
Epileptic encephalopathy, early infantile, 3
Epileptic encephalopathy, early infantile, 38
Epileptic encephalopathy, early infantile, 39
Epileptic encephalopathy, early infantile, 50
Epileptic encephalopathy, early infantile, 53
Epileptic encephalopathy, early infantile, 68
Epileptic encephalopathy, early infantile, 81
Epileptic encephalopathy, XLR
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IGE
Erythrokeratodermia variabilis
Erythropoietic protoporphyria
Ethyl malonic encephalopathy
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Exudative vitreoretinopathy 6
Factor V and factor VIII combined deficiency
Factor VII deficiency
Factor X deficiency
Factor XI deficiency (PTA)
Factor XIII deficiency
Familial erythrophagocytosis
Familial exudative vitreoretinopathy
Familial hypercholesterolemia, AD
Familial mediterranean fever
Familial neurohypophyseal diabetes insipidus
Fanconi anemia, complementation group A
Fanconi anemia, complementation group C
Fanconi anemia, complementation group D1
Fanconi anemia, complementation group E
Fanconi anemia, complementation group F
Fanconi anemia, complementation group G
Fanconi anemia, complementation group I
Fanconi anemia, complementation group J
Fanconi anemia, complementation group N
Fanconi anemia, complementation group Q
Fanconi anemia, complementation group S
Fanconi anemia, complementation group U
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Fetal akinesia deformation sequence
FINCA syndrome
Fleck retina, familial benign
Folate malabsorption, hereditary
Foveal hypoplasia
Frank-ter Haar syndrome
Friedreich ataxia
Frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Fructose intolerance, hereditary
Fructose-1,6-bisphosphatase deficiency
Fucosidosis
Fundus albipunctatus
G6PD deficiency
Galactokinase deficiency with cataracts
Galactose epimerase deficiency
Galactosemia
Galloway-Mowat syndrome
Galloway-Mowat syndrome 4
Galloway-Mowat syndrome 9
Gastrointestinal defects and immunodeficiency syndrome
Gaucher disease
Gaze palsy, familial horizontal, with progressive scoliosis
Geleophysic dysplasia 1
Geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Giant axonal neuropahty
Gitelman syndrome
Glanzmann thrombasthenia
Glaucoma 1A, primary open angle
Glaucoma 3A, primary open angle
Global developmental delay and dysmorphic features
Glucocorticoid deficiency 2
Glucocorticoid deficiency 4
Glucose-galactose malabsorption
Glutamate formiminotransferase deficiency
Glutaric acidemia IIC
Glutaric aciduria type I
Glutathione synthetase deficiency
Glycine encephalopathy
Glycine encephalopathy with normal serum glycine
Glycogen storage disease type 1a
Glycogen storage disease type IXc
Glycogen storage disease Ib
Glycogen storage disease III
Glycogen storage disease IV
Glycogen storage disease VI
Glycogen storage disease XIII
Glycogenosis type VII or phosphofructokinase deficiency (late onset)
Glycogenosis type X
Glycolyc aciduria
Glycosylphosphatidylinositol biosynthesis defect 15
Glycosylphosphatidylinositol biosynthesis defect 17
Glycosylphosphatidylinositol deficiency
GM1 gangliosidosis
Goldberg-Sprinzen syndrome
Gray platelet syndrome
Gricelli syndrome type 3
Gricelli syndrome type 4
Growth Hormone Deficiency Type Ia
Growth hormone deficiency, isolated, type IA
Growth retardation, developmental delay, facial dysmorphism
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Gyrate atrophy of the choroid and retina
Hartnup disorder
Hatipoglu immunodeficiency syndrome
hearing loss profound
Hemochromatosis
Hemoglobin H disease
Hemolytic uremic syndrome, Complement H factor 1 deficiency
Hemophagocytic lymphohistiocytosis, familial
Hemophagocytic lymphohistiocytosis, familial, 5
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Hengel-Maroofian-Schols syndrome
Hennekam lymphangiectasia-lymphedema syndrome 1
Hepatic venoocclusive disease with immunodeficiency
Hereditary haemorrhagic telangiectasia, AD
Hereditary leiomyomatosis and renal cell cancer
Hereditary motor neuropathy distal
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hermansky-pudlak syndrome 9
Heterotaxy and congenital heart defects
Heterotaxy, visceral, 10, autosomal, with male infertility
Heterotaxy, visceral, 6, autosomal recessive
Heterotaxy, visceral, 7, autosomal recessive
Heterotaxy, visceral, 8, autosomal
Heterotaxy, visceral, 9, autosomal, with male infertility
High density lipoprotein cholesterol level
Hindbrain malformation and myoclonic seizure
Hirshchprung disease
Histiocytosis-lymphadenopathy plus syndrome
HMG-CoA lyase deficiency
HMG-CoA synthase-2 deficiency
Holocarboxylase synthetase deficiency
Holoprosencephaly 11
Homocystinuria
Huntington disease
Hurler syndrome
Hyaline fibromatosis syndrome
Hydrocephalus, congenital, 2, with or without brain or eye anomalies
Hydrocephalus, non syndromic
Hypercalcemia, idiopathic infantile
Hyperchlorhidrosis
Hypercholanemia, familial 2
Hyperekplexia 1
Hyperekplexia 2
Hyper-IgD syndrome
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
Hyper-IgE recurrent infection syndrome
Hyper-IgE recurrent infection syndrome, autosomal recessive
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
hyperinsulinism/hyperammonemia syndrome
Hypermanganesemia with dystonia 1
Hypermanganesemia with dystonia 2
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Hyperoxaluria type I
Hyperoxaluria, type III
Hyperphenylalaninemia, BH4-deficient
Hyperphenylalaninemia, BH4-deficient, A
Hyperphenylalaninemia, Dystonia and Intellectual Disability
Hyperphosphatasia with impaired intellectual development syndrome 1
Hyperphosphatasia with mental retardation syndrome 2
Hyperphosphatasia with mental retardation syndrome 3
Hyperphosphatasia with mental retardation syndrome 4
Hyperprolactinemia
Hypertriglyceridemia
Hypertriglyceridemia, transient infantile
Hypertrophic cardiomyopathy, TRIM63 related
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Hypoalphalipoproteinemia, primary, 2
Hypocalciuric hypercalcemia, type I
Hypogonadotropic hypogonadism, idiopathic
Hypomagnesemia 1, intestinal
Hypomyelination and congenital cataract
Hypomyelination and developmental delay
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypophosphatasia, AD
Hypophosphatasia, infantile
Hypophosphatemic rickets with hypercalciuria
Hypophosphatemic rickets, X-linked dominant
Hypothyroidism, congenital, nongoitrous 4
Hypothyroidism, congenital, nongoitrous, 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Hypotrichosis simplex
Hypotrichosis with juvenile macular dystrophy
Hypouricemia, renal 2
Hypouricemia, renal, 1
Ichthyosis congenital recessive
Ichthyosis congenital recessive, clinical
Ichthyosis exfoliative
Ichthyosis prematurity syndrome
Ichthyosis with hypotrichosis
Ichthyosis, congenital, autosomal recessive 1
Ichthyosis, congenital, autosomal recessive 10
Ichthyosis, congenital, autosomal recessive 13
Ichthyosis, congenital, autosomal recessive 2
Ichthyosis, congenital, autosomal recessive 3
Ichthyosis, congenital, autosomal recessive 4A
Ichthyosis, congenital, autosomal recessive 5
Ichthyosis, congenital, autosomal recessive 6
Ichthyosis, congenital, autosomal recessive 8
Ichthyosis, congenital, autosomal recessive 9
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Imerslund-Grasbeck syndrome 1
Imerslund-Grasbeck syndrome 2
Immune deficiency and autoimmunity
Immune deficiency, POLR3E related
Immunodeficiency GIMAP6 related
Immunodeficiency 106, susceptibility to viral infections
Immunodeficiency 11A
Immunodeficiency 12
Immunodeficiency 15B
Immunodeficiency 22
Immunodeficiency 30
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive
Immunodeficiency 42
Immunodeficiency 48
Immunodeficiency 56
Immunodeficiency 57
Immunodeficiency 58
Immunodeficiency 64
Immunodeficiency 78 with autoimmunity and developmental delay
Immunodeficiency 8
Immunodeficiency 81
Immunodeficiency due to purine nucleoside phosphorylase deficiency
Immunodeficiency with hepatopathy, cognitive impairment, XLR
Immunodeficiency with hyper-IgM
Immunodeficiency with neurologic and muscular phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunodeficiency-centromeric instability-facial anomalies
INDYGON syndrome
Infantile bilateral striatal necrosis (Strionigral degeneration)
Infantile cerebellar-retinal degeneration
Infantile cortical hyperostosis
Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF)
Infantile liver failure syndrome 1
Infantile neurodegenerative disorder
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
infertility female
Inflammatory bowel disease
Insulin-like growth factor I, resistance to
Intelectual disability and short stature
Intellectual developmental disorder and retinitis pigmentosa
Intellectual developmental disorder with neuropsychiatric features
Intellectual developmental disorder with or without peripheral neuropathy
Intellectual developmental disorder with short stature, facial anomalies, and speech defects
Intellectual developmental disorder, autosomal recessive 1
Intellectual developmental disorder, autosomal recessive 57
Intellectual developmental disorder, autosomal recessive 61
Intellectual developmental disorder, autosomal recessive 70
Intellectual disability and DNA repair defect
intellectual disability and spastic paraplegia
Intellectual disability with seizures and dysmorphic Features
Intellectual disability, progressive spastic paraplegia
Interstitial lung and liver disease
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Intrinsic factor deficiency
Isovarelic acidemia
Jalili syndrome
Johanson-Blizzard syndrome
Joubert syndrome 1
Joubert syndrome 14
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 2
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 3
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 33
Joubert syndrome 40
Joubert syndrome 5
Joubert syndrome 8
Joubert syndrome 9
Juvenile arthritis
Kaufman oculocerebrofacial syndrome
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
Kindler syndrome
Knobloch syndrome
Kohlschütter-Tönz syndrome
Krabbe disease
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
Lacticacidemia due to PDX1 deficiency
Laron syndrome, Pituitary dwarfism II
LCHAD deficiency
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 13
Leber congenital amaurosis 16
Leber congenital amaurosis 2
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Lethal congenital contracture syndrome 11
Lethal congenital contracture syndrome 9
Lethal contractural syndrome 2
Lethal contractural syndrome 3
Lethal contractural syndrome 4
Lethal contractural syndrome 7
Leukocyte adhesion deficiency, type I
Leukocyte adhesion deficiency, type III
Leukodystrophy and acquired microcephaly with or without dystonia
Leukodystrophy with spastic paraparesis and dystonia
Leukodystrophy, early onset spastic paraparesis,acquired microcephaly, optic atrophy and risk of early death
Leukodystrophy, hypomyelinating ATRN related
Leukodystrophy, hypomyelinating, 10
Leukodystrophy, hypomyelinating, 11
Leukodystrophy, hypomyelinating, 17
Leukodystrophy, hypomyelinating, 18
Leukodystrophy, hypomyelinating, 3
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Leukodystrophy, progressive, early childhood-onset
Leukoencephalopathy with ataxia
Leukoencephalopathy with vanishing white matter
Li-Fraumeni syndrome, AD
LIG4 syndrome
Lipodystrophy, congenital generalized, type 1
Lipodystrophy, familial, partial
Lipoid proteinosis of Urbach-Wiethe
Lissencephaly with cerebellar hypoplasia
Lissencephaly, DMRTA2 related
Liver failure, transient infantile
Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia
Lymphedema primary
Lymphedema, hereditary, III
Lymphoproliferative syndrome
Lymphoproliferative syndrome, X-linked, 1
Lysinuric protein intolerance
Machado-Joseph disease, AD
Macrocephaly, alopecia, cutis laxa, and scoliosis
Macrocephaly, dysmorphic facies, and psychomotor retardation
Macular corneal dystrophy
Macular dystrophy AD, retinal, 3
Macular dystrophy with central cone involvement
macular dystrophy with or without cone dysfunction
Maculopathy
Manitoba oculotrichoanal syndrome
Mannosidosis, alpha
Maple syrup urine disease
Maturity-onset diabetes of the young 6
McArdle disease
Meckel syndrome 1
Meckel syndrome 11
Meckel syndrome 2
Meckel syndrome 3
Meckel syndrome 4
Meckel syndrome 5
Meckel syndrome 8
Meconium ileus familial
Medium chain acyl CoA dehydrogenase deficiency MCAD
MEDNIK syndrome
Medullary thyroid carcinoma
Megalencephalic leukoencephalopathy with subcortical cysts
Meir-Gorlin syndrome
Melanoma cutaneous, malignant
Meleda disease
Mental retardation with progressive microcephaly
Mental retardation, anterior maxillary protrusion, and strabismus
Mental retardation, autosomal recessive 3
Mental retardation, autosomal recessive 34, with variant lissencephaly
Mental retardation, autosomal recessive 36
Mental retardation, autosomal recessive 38
Mental retardation, autosomal recessive 40
Mental retardation, autosomal recessive 49
Mental retardation, autosomal recessive 53
Mental retardation, autosomal recessive 65
Mental retardation, autosomal recessive 67
Mental retardation, autosomal recessive 68
Merosin deficiency muscular dystrophy
Metachromatic leukodystrophy
Metaphyseal anadysplasia
Metaphyseal dysplasia, Spahr type
Methemoglobinemia
Methionine adenosyltransferase deficiency
Methyl malonic aciduria
Methylene tetrahydrofolate reductase deficiency
Methylmalonic aciduria and homocystinuria, cblC type
Mevalonate kinase deficiency
Microcephalic osteodysplastic primordial dwarfism, type II
Microcephaly 1, primary, autosomal recessive
Microcephaly 10, primary, autosomal recessive
Microcephaly 15, primary, autosomal recessive
Microcephaly 17, primary, autosomal recessive
Microcephaly 22, primary, autosomal recessive
Microcephaly 25, primary, autosomal recessive
Microcephaly 5, primary, autosomal recessive
Microcephaly 6, primary, autosomal recessive
Microcephaly 8, primary, autosomal recessive
Microcephaly 9, primary, autosomal recessive
Microcephaly with a severe neurodevelopmental disorder
Microcephaly with intellectual disability, AD
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Microcephaly, postnatal progressive, with seizures and brain atrophy
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Microcephaly, seizures, and developmental delay
Microcephaly, seizures, spasticity, and brain calcification
Microcephaly, short stature, and impaired glucose metabolism
Microcephaly, short stature, and limb abnormalities
Microcephaly,retinitis pigmentosa, short stature, cataract
Microphthalmia with coloboma 3
Microphthalmia, isolated 5
Microphthalmia, isolated 8
Microphthalmia, syndromic 9
Microvillus inclusion disease
Minicore myopathy with external ophthalmoplegia
Mismatch repair cancer syndrome
Mitchell-Riley syndrome
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 10
Mitochondrial complex I deficiency, nuclear type 14
Mitochondrial complex I deficiency, nuclear type 15
Mitochondrial complex I deficiency, nuclear type 16
Mitochondrial complex I deficiency, nuclear type 18
Mitochondrial complex I deficiency, nuclear type 19
Mitochondrial complex I deficiency, nuclear type 20
Mitochondrial complex I deficiency, nuclear type 22
Mitochondrial complex I deficiency, nuclear type 3
Mitochondrial complex I deficiency, nuclear type 33
Mitochondrial complex I deficiency, nuclear type 35
Mitochondrial complex I deficiency, nuclear type 6
Mitochondrial complex I deficiency, nuclear type 9
Mitochondrial complex II deficiency
Mitochondrial complex II deficiency, nuclear type 2
Mitochondrial complex III deficiency, nuclear type 1
Mitochondrial complex III deficiency, nuclear type 2
Mitochondrial complex III deficiency, nuclear type 4
Mitochondrial complex IV deficiency
Mitochondrial complex IV deficiency, nuclear type 12
Mitochondrial complex IV deficiency, nuclear type 16
Mitochondrial complex IV deficiency, nuclear type 3
Mitochondrial complex IV deficiency, nuclear type 6
Mitochondrial complex IV deficiency, nuclear type 7
Mitochondrial complex IV deficiency, nuclear type 8
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
Mitochondrial DNA depletion syndrome 2 (myopathic type)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 4A (Alpers type)
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8A
Mitochondrial encephalopathy, IDH3A related
Mitochondrial Hsp60 Chaperonopathy disease
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Mitochondrial neurodegenerative disorder, fatal
MODY, AD
Molybdenum cofactor deficiency
Molybdenum cofactor deficiency B
Monilethrix
Monilethrix, AD
Morbid obesity and spermatogenic failure
Mucolipidosis II/III
Mucolipidosis IV
Mucopolysaccharidosis IVA
Mucopolysaccharidosis type IIIA (Sanfilippo A)
Mucopolysaccharidosis type IIIC (Sanfilippo C)
Mucopolysaccharidosis type VI
Mucopolysaccharidosis-plus syndrome
Mulibrey nanism
Multiple congenital anomalies and global developmental delay
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
Multiple mitochondrial dysfunctions syndrome 4
Multiple pterygium syndrome, lethal type
Multiple sulfatase deficiency
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Muscular dystrophy, congenital, with cataracts and intellectual disability
Muscular dystrophy, limb-girdle, autosomal recessive 28
Muscular dystrophy, limb-girdle, autosomal recessive 3
Muscular dystrophy, limb-girdle, autosomal recessive 7
Muscular dystrophy, limb-girdle, autosomal recessive 8
Muscular dystrophy, limb-girdle, type 2A
Muscular dystrophy, limb-girdle, type 2B
Muscular dystrophy, limb-girdle, type 2E
Muscular dystrophy, limb-girdle, type 2L
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Myasthenia, congenital, 12, with tubular aggregates
Myasthenic syndrome, congenital, 10
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 21, presynaptic
Myasthenic syndrome, congenital, 25
Myasthenic syndrome, congenital, 2A, slow-channel
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, 5
Myasthenic syndrome, congenital, 6, presynaptic
Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal recessive
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Myoclonic epilepsy, familial infantile
Myoglobinuria, acute recurrent
Myopathy congenital
Myopathy due to myoadenylate deaminase deficiency
Myopathy with extrapyramidal signs
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
Myopathy, congenital, progressive, with scoliosis
Myopathy, congenital, with fiber-type disproportion
Myopathy, distal, 5
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, mitochondrial, and ataxia
Myopathy, myofibrillar, 1
Myopathy, myofibrillar, 7
Myopathy, myofibrillar, 8
Myopathy, proximal and ophthalmoplegia
Myopia 23, autosomal recessive
Myopia 28, autosomal recessive
Myopia, high, with cataract and vitreoretinal degeneration
Myotonia congenita, recessive
Myotonic dystrophy, AD
Nemaline myopathy 10
Nemaline myopathy 2, autosomal recessive
Nemaline myopathy 5, Amish type
Nemaline myopathy 7, autosomal recessive
Nemaline myopathy 8, autosomal recessive
Neonatal diabetes, severe obesity and developmental delay
Nephronophthisis 1, juvenile
Nephronophthisis 13
Nephronophthisis 4
Nephronophthisis infantile
Nephronophthisis 19
Nephrotic syndrome, type 1
Nephrotic syndrome, type 14
Nephrotic syndrome, type 2
Nephrotic syndrome, type 23
Nephrotic syndrome, type 3
Nephrotic syndrome, type 8
Nephrotic syndrome, type 9
Netherton syndrome
Neu-Laxova syndrome
Neuroaxonal dystrophy, infantile
Neurocardiofaciodigital syndrome
Neurodegeneration and seizures due to copper transport defect
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
Neurodegeneration, childhood-onset, with cerebellar atrophy
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Neurodevelopmental disorder associated with fetal intracranial hemorrhage
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental disorder with central and peripheral motor dysfunction
Neurodevelopmental disorder with dysmorphic facies and variable seizures
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Neurodevelopmental disorder with hearing loss and spasticity
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
Neurodevelopmental disorder with microcephaly and gray sclerae
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
neurodevelopmental disorder
Neuronopathy, distal hereditary motor, type VI
Neuropathy, distal hereditary motor, type VA
Neuropathy, hereditary motor and sensory, type VIB
Neuropathy, hereditary motor, with myopathic features
Neuropathy, hereditary sensory and autonomic, type VI
Neuropathy, hereditary sensory and autonomic, type VIII
Neutropenia, congenital severe
Neutropenia, severe congenital 4, autosomal recessive
Neutropenia, severe congenital, 5, autosomal recessive
Neutropenia, severe congenital, 6, autosomal recessive
Niemann-Pick type C disease
Niemann-Pick type A,B disease
Night blindness, congenital stationary
Night blindness, congenital stationary (complete), 1B, autosomal recessive
Night blindness, congenital stationary (complete), 1D, autosomal recessive
Night blindness, congenital stationary, type 1G
Night blindness, congenital stationary, type 1H
Nijmegen breakage syndrome-like disorder
Nonaka myopathy
Noonan syndrome, AR
Nystagmus 1, congenital, X-linked
Obesity, MC4R related
Occipital cortical malformations
Occult macular dystrophy, AD
Oculogastrointestinal neurodevelopmental syndrome
Oculopharyngeal muscular dystrophy , AD
Oculoskeletodental syndrome
Oguchi disease-1
Olmsted syndrome
Ommen syndrome
Omodysplasia
Oocyte maturation defect 4
Opsismodysplasia
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Orofaciodigital syndrome XVII
Orotic aciduria
Osteogenesis imperfecta type IX
Osteogenesis imperfecta, type VI
Osteogenesis imperfecta, type VII
Osteogenesis imperfecta, type VIII
Osteogenesis imperfecta, type X
Osteogenesis imperfecta, type XI
Osteogenesis imperfecta, type XIII
Osteogenesis imperfecta, type XIV
Osteogenesis imperfecta, type XX
Osteopetrosis, autosomal dominant 1
Osteopetrosis, autosomal recessive 1
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal recessive 5
Osteopetrosis, autosomal recessive 7
Osteopetrosis, autosomal recessive 8
Osteoporosis, idiopathic
Osteoporosis-pseudoglioma syndrome
Osteosclerotic metaphyseal dysplasia
Ovarian dysgenesis 3
Ovarian dysgenesis 4
Ovarian dysgenesis 6
Ovarian dysgenesis 7
Ovarian dysgenesis 9
Ovarian dysgenesis
Pachyonychia congenita 1, AD
palmoplantar keratoderma, AR
Palmoplantar keratoderma, Nagashima type
Papillon-Lefevre syndrome (Haim-Munk syndrome)
Paramyotonia congenita, AD
Parkinson disease 15, autosomal recessive
Parkinson disease 19b, early-onset
Parkinson disease 6, early onset
Parkinson disease, juvenile, type 2
Partial DBR1 deficiency
Peeling skin syndrome
Peeling skin syndrome 6
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Pendred syndrome
Pentosuria
Peripheral Neuropathy and Hearing Loss
Periventricular heterotopia with microcephaly
Perlman syndrome
Peroxisomal acyl-CoA oxidase deficiency
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 9B (Refsum adult)
Perrault syndrome 1
Perrault syndrome 3
Perrault syndrome 4
Persistent Mullerian Duct Syndrome
Phenylketonuria, hyperphenylalaninemia
Phosphoenolpyruvate carboxykinase deficiency
Phosphoglucomutase 1 deficiency
Pierson syndrome
Pitt-Hopkins like syndrome
Pituitary hormone deficiency, combined, 1
Pituitary hormone deficiency, combined, 2
Plasminogen deficiency, type I
Polycystic kidney disease 5
Polycystic ovary syndrome
Polydactyly, postaxial, type A9
Polymicrogyria, bilateral frontoparietal
Polyposis syndrome, mixed hereditary, AD
Polyposis syndrome, MUTYH associated
Polyposis, juvenile intestinal
Pompe disease
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
Pontocerebellar hypoplasia, type 11
Pontocerebellar hypoplasia, type 1B
Pontocerebellar hypoplasia, type 1C
Pontocerebellar hypoplasia, type 1F
Pontocerebellar hypoplasia, type 6
Pontocerebellar hypoplasia, type 9
POR deficiency
Poretti-Boltshauser syndrome
Porphyria variegata, AD
Porphyria, congenital erythropoietic
Postaxial acrofacial dysostosis
Premature ovarian failure 10
Premature ovarian failure 12
Premature ovarian failure 19
Premature ovarian failure 4, XL
Premature ovarian failure 8
Premature ovarian failure 9
Primary hyperparathyroidism, AD
Progressive and complex movement disorder
Progressive cerebello-cerebral atrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Progressive Myoclonic epilepsy, Lafora disease
Progressive Myoclonic epilepsy, Unverrich-Lundborg
Progressive myoclonic epilepsy-ataxia
Prolidase deficiency
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Propionic acidemia
Proteasome-associated autoinflammatory syndrome 5
Protein losing enteropathy with hypercoagulabilty
Pseudocholinesterase deficiency
Pseudohermaphroditism, male, with gynecomastia
Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism, type IB3, autosomal recessive
Pseudovaginal perineoscrotal hypospadias
Pseudoxanthoma elasticum
Psoriasis 14, pustular
Pulmonary hypertension, primary, 5
Pycnodysostosis
Pyridoxamine 5'-phosphate oxidase deficiency
Pyruvate kinase deficiency
Pyruvate carboxylase deficiency
Rafiq syndrome
Raine syndrome
RECON Syndrome
Refsum disease
Renal glucosuria
Renal tubular acidosis, proximal, with ocular abnormalities
Renal tubular dysgenesis
Reticular dysgenesis
Retinal cone dystrophy
Retinal cone dystrophy 3B
retinal degeneration with marked macular involvement
Retinal degenerationautosomal recessive
retinal dystrophy TTC21B associated
Retinal dystrophy with macular staphyloma
Retinal dystrophy with or without extraocular anomalies
Retinitis pigmentosa 1
Retinitis pigmentosa 12, autosomal recessive
Retinitis pigmentosa 14
Retinitis pigmentosa 17
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 40
Retinitis pigmentosa 43
Retinitis pigmentosa 45
Retinitis pigmentosa 49
Retinitis pigmentosa 54
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 59
Retinitis pigmentosa 62
Retinitis pigmentosa 66
Retinitis pigmentosa 69
Retinitis pigmentosa 7
Retinitis pigmentosa 73
Retinitis pigmentosa 74, BBS2 related
Retinitis pigmentosa 75
Retinitis pigmentosa 77
Retinitis pigmentosa 80
Retinitis pigmentosa 84
Retinitis pigmentosa 85
Retinitis pigmentosa 90
Retinitis pigmentosa ACACB related
retinitis pigmentosa SLC37A3 related
retinitis pigmentosa SLC4A7 related
retinitis pigmentosa SLC66A1 related
Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa, kidney disease and microcephaly
Retinitis pigmentosa, SPATA7 related
Rhizomelic chondrodysplasia punctata, type 2
Rickets, hereditary hypophosphatemic
Rickets, vitamin D-resistant
Right atrial isomerism (Ivemark)
Rigidity and multifocal seizure syndrome, lethal neonatal
Roberts syndrome
Rothmund-Thomson syndrome
Salih myopathy
salt and pepper developmental regression syndrome
Sandestig-Stefanova syndrome
Sandhoff disease
Sanfilippo B disease (MPSIIIB)
Sarcosinemia
SCEH deficiency
Schimke Immuno-osseous Dysplasia
Schwartz-Jampel syndrome type 1
Seborrhea-like dermatitis with psoriasiform elements
Seckel syndrome 7
Senger like syndrome
Sengers syndrome
Senior Locken 4
Senior Locken 5
Senior-Loken syndrome 7
Senior-Loken syndrome-1
SERKAL syndrome
Severe immune suppression and atypical osteopetrosis
Severe combined immunodeficiency due to ADA deficiency
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type
Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
Severe neurocognitive syndrome
Short stature, brachydactyly, intellectual developmental disability, and seizures
Short stature, developmental delay, and congenital heart defects
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Short-Rib Polydactyly Syndrome Type Majewski
Short-Rib thoracic dysplasia
Short-rib thoracic dysplasia 17 with or without polydactyly
Short-rib thoracic dysplasia 3 with or without polydactyly
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Sialic acid storage disorder, infantile
Sialidosis, type I
Sickle cell anemia
Silver-Russell syndrome like
Sinoatrial node dysfunction and deafness
Sinus bradycardia, familial
Sitosterolemia
Situs inversus totalis
Sjogren-Larsson syndrome
Smith-Lemli-Opitz syndrome
Sorbitol dehydrogenase deficiency with peripheral neuropathy
Spastic ataxia, Charlevoix- Sauguenay
Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 23, autosomal recessive
Spastic paraplegia 26, autosomal recessive
Spastic paraplegia 30, autosomal recessive
Spastic paraplegia 43, autosomal recessive
Spastic paraplegia 45, autosomal recessive
Spastic paraplegia 47, autosomal recessive
Spastic paraplegia 49, autosomal recessive
Spastic paraplegia 50, autosomal recessive
Spastic paraplegia 51, autosomal recessive
Spastic paraplegia 52, autosomal recessive
Spastic paraplegia 54, autosomal recessive
Spastic paraplegia 55, autosomal recessive
Spastic paraplegia 56, autosomal recessive
Spastic paraplegia 5A, autosomal recessive
Spastic paraplegia 61, autosomal recessive
Spastic paraplegia 64, autosomal recessive
Spastic paraplegia 7, autosomal recessive
Spastic paraplegia 72, autosomal recessive
Spastic paraplegia 74, autosomal recessive
Spastic paraplegia 75, autosomal recessive
Spastic paraplegia 76, autosomal recessive
Spastic paraplegia 81, autosomal recessive
Spastic paraplegia 82, autosomal recessive
Spastic paraplegia 84, autosomal recessive
Spastic paraplegia and psychomotor retardation with or without seizures
Spastic paraplegia, optic atrophy, and neuropathy
Spastic tetraplegia and axial hypotonia, progressive
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Specific granule deficiency 2
Spermatogenic failure 15
Spermatogenic failure 20
Spermatogenic failure 22
Spermatogenic failure 23
Spermatogenic failure 30
Spermatogenic failure 49
Spermatogenic failure 54
Spermatogenic failure 6
Spermatogenic failure 62
Spermatogenic failure, X linked, 1
Spherocytosis, type 3
Spinal motor neuropathy
Spinal muscular atrophy (SMA)
Spinal muscular atrophy with congenital bone fractures 2
Spinal muscular atrophy with progressive myoclonic epilepsy
Spinal muscular atrophy, distal, autosomal recessive, 2
Spinal muscular atrophy, distal, autosomal recessive, 4
Spinocerebellar ataxia, autosomal recessive 10
Spinocerebellar ataxia, autosomal recessive 12
Spinocerebellar ataxia, autosomal recessive 16
Spinocerebellar ataxia, autosomal recessive 20
Spinocerebellar ataxia, autosomal recessive 21
Spinocerebellar ataxia, autosomal recessive 27
Spinocerebellar ataxia, autosomal recessive 28
Spinocerebellar ataxia, autosomal recessive 30
Spondylocostal dysostosis
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia (Shohat-type)
Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondylometaepiphyseal dysplasia, short limb-hand type
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
Spondylometaphyseal dysplasia, Sedaghatian type
Stickler syndrome, type VI
Striatonigral degeneration, childhood-onset
Stromme syndrome
Structural heart defects and renal anomalies syndrome
Stuve-Wiedmann syndrome
Succinic semialdehyde dehydrogenase deficiency
Sucrase-isomaltase deficiency, congenital
Surfactant metabolism dysfunction, pulmonary, 2
Surfactant metabolism dysfunction, pulmonary, 3
Symmetric circumferential skin creases, congenital, 2
Syndrome of hindbrain development, kidney and blood
Syndrome of hypotonia and psychomotor developmental delay
syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Tangier disease
Tay Sachs disease
Thalassemia delta-beta
Thalassemia, alpha
Thalassemia, beta
Thiamine metabolism dysfunction syndrome 2
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
Thiamine-responsive megaloblastic anemia syndrome
Thoracic aortic aneurysms and aortic dissections,AD
Thrombocytopenia 5
Thrombocytopenia, small platlets
Thrombocytosis
Thrombophilia due to protein C deficiency, autosomal recessive
Thrombotic thrombocytopenic purpura, familial
Thyroid dyshormonogenesis
Thyroid hormone metabolism, abnormal, 1
Thyroid hormone resistance, AD
Transaldolase deficiency
Transcobalamin II deficiency
Trichohepatoenteric syndrome 1
Trichohepatoenteric syndrome 2
Trichothiodystrophy, nonphotosensitive
Triple A (Allgrove syndrome) achalasia, alacrimia, adrenal insuficiency
Troyer syndrome
Truncus arteriosus
Tubular proteinuria and Deafness
Tumor predisposition syndrome 3, AD
Tumoral calcinosis, familial, normophosphatemic
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Ullrich congenital muscular dystrophy 1
Uridine-responsive macrocytic anaemia
Urofacial syndrome 2
Usher syndrome type 3B
Usher syndrome, type 1B
Usher syndrome, type 1C
Usher syndrome, type 1F
Usher syndrome, type 1G
Usher syndrome, type 2A
Usher syndrome, type 2C
Usher syndrome, type 3A
Usher syndrome, type IV
Usher syndrome, YARS1 related
Usher2A associated disease
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
Ventricular tachycardia, polymorphic catecholaminergic
Ventriculomegaly with Cystic Kidney Disease
Vici syndrome
VISS syndrome
Von Willebrand disease, AD
von Willebrand disease, type 3
Waardenburg syndrome, AD
Warburg micro syndrome 1
Warburg micro syndrome 2
Warsaw breakage syndrome
Webb-Dattani syndrome
Weill-Marchesani syndrome 1, recessive
Weill-Marchesani syndrome 3, recessive
Weissenbacher-Zweymuller syndrome
Wilson disease
Wiskott-Aldrich like syndrome
Wiskott-Aldrich syndrome
Wolfram syndrome
Wolfram syndrome 2
Wolman disease
Woodhouse-Sakati syndrome
Xanthinuria I
Xanthinuria II
Xeroderma pigmentosum/Cockayne
Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group C
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group E, DDB-negative subtype
You-Hoover-Fong syndrome
Zaki syndrome
Zinc deficiency, transient neonatal, AD
Or (min 4 chars)
X
Population
Ethnic Group
Disease
Phenotype
MIM Disease
Gene
OMIM Gene
Mutation (c)
Mutation (p)
No. of Chromosome Families
Carrier Frequency
Source
Franklin
varsome
Location
No Items Found
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