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Disease association ontology term - MONDO:0005071 - nervous system disorder

Term summary

ID
MONDO:0005071
Name
nervous system disorder
Ontology or CV name
Disease association
Definition
A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.

Parents

Annotation

Disease association

MONDO:0005071 - nervous system disorder

References:

Genes:

MONDO:0016001 - 2-hydroxyglutaric aciduria

References:

Genes:

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

References:

Genes:

MONDO:0100255 - adenosine kinase deficiency

References:

Genes:

MONDO:0008453 - adult-onset proximal spinal muscular atrophy, autosomal dominant

References:

Genes:

MONDO:0012099 - AICA-ribosiduria

References:

Genes:

MONDO:0012429 - Aicardi-Goutieres syndrome 2

References:

Genes:

MONDO:0012471 - Aicardi-Goutieres syndrome 3

References:

Genes:

MONDO:0012472 - Aicardi-Goutieres syndrome 4

References:

Genes:

MONDO:0014007 - Aicardi-Goutieres syndrome 6

References:

Genes:

MONDO:0014648 - Al-Raqad syndrome

References:

Genes:

MONDO:0100084 - alpha-actinopathy

References:

Genes:

MONDO:0011790 - Amish lethal microcephaly

References:

Genes:

MONDO:0971004 - amyloidosis, hereditary systemic 1

References:

Genes:

MONDO:0004976 - amyotrophic lateral sclerosis

References:

Genes:

MONDO:0859529 - amyotrophic lateral sclerosis 27, juvenile

References:

Genes:

MONDO:0007103 - amyotrophic lateral sclerosis type 1

References:

Genes:

MONDO:0012945 - amyotrophic lateral sclerosis type 11

References:

Genes:

MONDO:0010459 - amyotrophic lateral sclerosis type 15

References:

Genes:

MONDO:0013715 - amyotrophic lateral sclerosis type 16

References:

Genes:

MONDO:0014531 - amyotrophic lateral sclerosis type 22

References:

Genes:

MONDO:0011223 - amyotrophic lateral sclerosis type 4

References:

Genes:

MONDO:0012077 - amyotrophic lateral sclerosis type 8

References:

Genes:

MONDO:0008076 - amyotrophic neuralgia

References:

Genes:

MONDO:0000819 - anencephaly

References:

Genes:

MONDO:0014937 - aniridia 2

References:

Genes:

MONDO:0014557 - ataxia - oculomotor apraxia type 4

References:

Genes:

MONDO:0008840 - ataxia telangiectasia

References:

Genes:

MONDO:0008842 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

References:

Genes:

MONDO:0008980 - ataxia-hypogonadism-choroidal dystrophy syndrome

References:

Genes:

MONDO:0024557 - ataxia-telangiectasia-like disorder 1

References:

Genes:

MONDO:0014399 - ataxia-telangiectasia-like disorder 2

References:

Genes:

MONDO:0014700 - Au-Kline syndrome

References:

Genes:

MONDO:0012196 - autosomal dominant auditory neuropathy 1

References:

Genes:

MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

References:

Genes:

MONDO:0014711 - autosomal dominant Charcot-Marie-Tooth disease type 2W

References:

Genes:

MONDO:0008026 - autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

References:

Genes:

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

References:

Genes:

MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

References:

Genes:

MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

References:

Genes:

MONDO:0007424 - autosomal dominant nonsyndromic hearing loss 1

References:

Genes:

MONDO:0011350 - autosomal dominant nonsyndromic hearing loss 17

References:

Genes:

MONDO:0011480 - autosomal dominant nonsyndromic hearing loss 20

References:

Genes:

MONDO:0011568 - autosomal dominant nonsyndromic hearing loss 25

References:

Genes:

MONDO:0014603 - autosomal dominant nonsyndromic hearing loss 40

References:

Genes:

MONDO:0010915 - autosomal dominant nonsyndromic hearing loss 4A

References:

Genes:

MONDO:0014594 - autosomal dominant nonsyndromic hearing loss 67

References:

Genes:

MONDO:0014853 - autosomal dominant nonsyndromic hearing loss 70

References:

Genes:

MONDO:0014720 - autosomal dominant optic atrophy plus syndrome

References:

Genes:

MONDO:0008134 - autosomal dominant optic atrophy, classic form

References:

Genes:

MONDO:0012166 - autosomal dominant sensory ataxia 1

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

References:

Genes:

MONDO:0015244 - autosomal recessive cerebellar ataxia

References:

Genes:

MONDO:0014702 - autosomal recessive complex spastic paraplegia type 9B

References:

Genes:

MONDO:0011436 - autosomal recessive distal spinal muscular atrophy 1

References:

Genes:

MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

References:

Genes:

MONDO:0014796 - autosomal recessive early-onset Parkinson disease 23

References:

Genes:

MONDO:0011658 - autosomal recessive early-onset Parkinson disease 7

References:

Genes:

MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

References:

Genes:

MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

References:

Genes:

MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

References:

Genes:

MONDO:0019502 - autosomal recessive non-syndromic intellectual disability

References:

Genes:

MONDO:0012091 - autosomal recessive nonsyndromic hearing loss 32

References:

Genes:

MONDO:0010933 - autosomal recessive nonsyndromic hearing loss 4

References:

Genes:

MONDO:0013471 - autosomal recessive nonsyndromic hearing loss 61

References:

Genes:

MONDO:0013386 - autosomal recessive nonsyndromic hearing loss 74

References:

Genes:

MONDO:0014237 - autosomal recessive nonsyndromic hearing loss 76

References:

Genes:

MONDO:0013489 - autosomal recessive nonsyndromic hearing loss 89

References:

Genes:

MONDO:0010986 - autosomal recessive nonsyndromic hearing loss 9

References:

Genes:

MONDO:0016660 - autosomal recessive primary microcephaly

References:

Genes:

MONDO:0014975 - autosomal recessive spastic paraplegia type 78

References:

Genes:

MONDO:0013392 - autosomal recessive spinocerebellar ataxia 10

References:

Genes:

MONDO:0014503 - autosomal recessive spinocerebellar ataxia 17

References:

Genes:

MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

References:

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0004183 - axonal neuropathy

References:

Genes:

MONDO:0013812 - Baraitser-winter syndrome 2

References:

Genes:

MONDO:0014628 - basal ganglia calcification, idiopathic, 6

References:

Genes:

MONDO:0008858 - Behr syndrome

References:

Genes:

MONDO:0008206 - benign paroxysmal tonic upgaze of childhood with ataxia

References:

Genes:

MONDO:0012986 - bilateral parasagittal parieto-occipital polymicrogyria

References:

Genes:

MONDO:0008947 - bilateral striopallidodentate calcinosis

References:

Genes:

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

References:

Genes:

MONDO:0010977 - Brody myopathy

References:

Genes:

MONDO:0020730 - carpal tunnel syndrome 1

References:

Genes:

MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

References:

Genes:

MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

References:

Genes:

MONDO:0014104 - cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

References:

Genes:

MONDO:0014811 - cerebellar atrophy, visual impairment, and psychomotor retardation;

References:

Genes:

MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

References:

Genes:

MONDO:0014529 - cerebellar-facial-dental syndrome

References:

Genes:

MONDO:0975952 - cerebral cavernous malformations 5

References:

Genes:

MONDO:0014862 - cerebral palsy, spastic quadriplegic, 3

References:

Genes:

MONDO:0015026 - cerebroretinal microangiopathy with calcifications and cysts 2

References:

Genes:

MONDO:0957264 - cerebroretinal microangiopathy with calcifications and cysts 3

References:

Genes:

MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

References:

Genes:

MONDO:0015626 - Charcot-Marie-Tooth disease

References:

Genes:

MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F

References:

Genes:

MONDO:0012096 - Charcot-Marie-Tooth disease axonal type 2L

References:

Genes:

MONDO:0013212 - Charcot-Marie-Tooth disease axonal type 2N

References:

Genes:

MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

References:

Genes:

MONDO:0014511 - Charcot-Marie-Tooth disease axonal type 2S

References:

Genes:

MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U

References:

Genes:

MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

References:

Genes:

MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

References:

Genes:

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

References:

Genes:

MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

References:

Genes:

MONDO:0012231 - Charcot-Marie-Tooth disease type 2A2

References:

Genes:

MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

References:

Genes:

MONDO:0011570 - Charcot-Marie-Tooth disease type 2B2

References:

Genes:

MONDO:0011091 - Charcot-Marie-Tooth disease type 2D

References:

Genes:

MONDO:0014735 - Charcot-Marie-Tooth disease type 2Y

References:

Genes:

MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1

References:

Genes:

MONDO:0011534 - Charcot-Marie-Tooth disease type 4G

References:

Genes:

MONDO:0012640 - Charcot-Marie-Tooth disease type 4J

References:

Genes:

MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

References:

Genes:

MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

References:

Genes:

MONDO:0010689 - Charcot-Marie-Tooth disease X-linked recessive 4

References:

Genes:

MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

References:

Genes:

MONDO:0014906 - Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

References:

Genes:

MONDO:0032728 - Charcot-Marie-Tooth disease, axonal, type 2EE

References:

Genes:

MONDO:0011675 - Charcot-Marie-Tooth Disease, axonal, type 2GG

References:

Genes:

MONDO:0030677 - Charcot-Marie-Tooth disease, demyelinating, IIA 1I

References:

Genes:

MONDO:0008963 - Chediak-Higashi syndrome

References:

Genes:

MONDO:0002797 - childhood medulloblastoma

References:

Genes:

MONDO:0044701 - childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

References:

Genes:

MONDO:0008695 - chorea-acanthocytosis

References:

Genes:

MONDO:0010557 - choroideremia

References:

Genes:

MONDO:0010441 - CK syndrome

References:

Genes:

MONDO:0030914 - Clark-Baraitser syndrome

References:

Genes:

MONDO:0018151 - coenzyme Q10 deficiency

References:

Genes:

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

References:

Genes:

MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

References:

Genes:

MONDO:0033615 - coenzyme q10 deficiency, primary, 9

References:

Genes:

MONDO:0010561 - Coffin-Lowry syndrome

References:

Genes:

MONDO:0013541 - complex cortical dysplasia with other brain malformations 1

References:

Genes:

MONDO:0014171 - complex cortical dysplasia with other brain malformations 4

References:

Genes:

MONDO:0014337 - complex cortical dysplasia with other brain malformations 5

References:

Genes:

MONDO:0014341 - complex cortical dysplasia with other brain malformations 6

References:

Genes:

MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

References:

Genes:

MONDO:0014372 - cone-rod dystrophy 19

References:

Genes:

MONDO:0014669 - cone-rod dystrophy 21

References:

Genes:

MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

References:

Genes:

MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

References:

Genes:

MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

References:

Genes:

MONDO:0012518 - congenital myasthenic syndrome 12

References:

Genes:

MONDO:0013883 - congenital myasthenic syndrome 13

References:

Genes:

MONDO:0014543 - congenital myasthenic syndrome 14

References:

Genes:

MONDO:0014542 - congenital myasthenic syndrome 15

References:

Genes:

MONDO:0014590 - congenital myasthenic syndrome 18

References:

Genes:

MONDO:0008070 - congenital myopathy 2a, typical, autosomal dominant

References:

Genes:

MONDO:0800341 - congenital myopathy 4A, autosomal dominant

References:

Genes:

MONDO:0012239 - congenital myopathy 4B, autosomal recessive

References:

Genes:

MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant

References:

Genes:

MONDO:0014872 - congenital stationary night blindness 1H

References:

Genes:

MONDO:0010333 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

References:

Genes:

MONDO:0009050 - Cushing disease due to pituitary adenoma

References:

Genes:

MONDO:0014072 - D,L-2-hydroxyglutaric aciduria

References:

Genes:

MONDO:0024554 - D-2-hydroxyglutaric aciduria 1

References:

Genes:

MONDO:0013345 - d-2-hydroxyglutaric aciduria 2

References:

Genes:

MONDO:0010578 - deafness dystonia syndrome

References:

Genes:

MONDO:0010799 - deafness, aminoglycoside-induced

References:

Genes:

MONDO:0027048 - deafness, Y-linked 2

References:

Genes:

MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

References:

Genes:

MONDO:0030881 - developmental and epileptic encephalopathy 102

References:

Genes:

MONDO:0031021 - developmental and epileptic encephalopathy 104

References:

Genes:

MONDO:0031028 - developmental and epileptic encephalopathy 105 with hypopituitarism

References:

Genes:

MONDO:0031055 - developmental and epileptic encephalopathy 107

References:

Genes:

MONDO:0859325 - developmental and epileptic encephalopathy 109

References:

Genes:

MONDO:0957780 - developmental and epileptic encephalopathy 111

References:

Genes:

MONDO:0958330 - developmental and epileptic encephalopathy 113

References:

Genes:

MONDO:0968946 - developmental and epileptic encephalopathy 115

References:

Genes:

MONDO:0970945 - developmental and epileptic encephalopathy 116

References:

Genes:

MONDO:0020630 - developmental and epileptic encephalopathy 91

References:

Genes:

MONDO:0020632 - developmental and epileptic encephalopathy 93

References:

Genes:

MONDO:0014150 - developmental and epileptic encephalopathy 94

References:

Genes:

MONDO:0023659 - developmental and epileptic encephalopathy 96

References:

Genes:

MONDO:0013389 - developmental and epileptic encephalopathy, 12

References:

Genes:

MONDO:0014199 - developmental and epileptic encephalopathy, 17

References:

Genes:

MONDO:0014392 - developmental and epileptic encephalopathy, 25

References:

Genes:

MONDO:0014593 - developmental and epileptic encephalopathy, 29

References:

Genes:

MONDO:0012245 - developmental and epileptic encephalopathy, 3

References:

Genes:

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

References:

Genes:

MONDO:0957248 - developmental and epileptic encephalopathy, 31B

References:

Genes:

MONDO:0014625 - developmental and epileptic encephalopathy, 33

References:

Genes:

MONDO:0014719 - developmental and epileptic encephalopathy, 35

References:

Genes:

MONDO:0010472 - developmental and epileptic encephalopathy, 36

References:

Genes:

MONDO:0014868 - developmental and epileptic encephalopathy, 38

References:

Genes:

MONDO:0012812 - developmental and epileptic encephalopathy, 4

References:

Genes:

MONDO:0014895 - developmental and epileptic encephalopathy, 40

References:

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

References:

Genes:

MONDO:0015000 - developmental and epileptic encephalopathy, 48

References:

Genes:

MONDO:0014647 - developmental and epileptic encephalopathy, 50

References:

Genes:

MONDO:0015025 - developmental and epileptic encephalopathy, 51

References:

Genes:

MONDO:0033362 - developmental and epileptic encephalopathy, 53

References:

Genes:

MONDO:0033364 - developmental and epileptic encephalopathy, 55

References:

Genes:

MONDO:0033365 - developmental and epileptic encephalopathy, 56

References:

Genes:

MONDO:0029138 - developmental and epileptic encephalopathy, 67

References:

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

Genes:

MONDO:0032752 - developmental and epileptic encephalopathy, 75

References:

Genes:

MONDO:0032768 - developmental and epileptic encephalopathy, 76

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0032822 - developmental and epileptic encephalopathy, 80

References:

Genes:

MONDO:0032858 - developmental and epileptic encephalopathy, 81

References:

Genes:

MONDO:0032880 - developmental and epileptic encephalopathy, 82

References:

Genes:

MONDO:0032895 - developmental and epileptic encephalopathy, 83

References:

Genes:

MONDO:0026771 - developmental and epileptic encephalopathy, 85, with or without midline brain defects

References:

Genes:

MONDO:0030059 - developmental and epileptic encephalopathy, 87

References:

Genes:

MONDO:0044326 - developmental delay and seizures with or without movement abnormalities

References:

Genes:

MONDO:0005503 - developmental disorder of mental health

References:

Genes:

MONDO:0014335 - diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

References:

Genes:

MONDO:0006033 - diffuse intrinsic pontine glioma

References:

Genes:

MONDO:0012994 - dopa-responsive dystonia due to sepiapterin reductase deficiency

References:

Genes:

MONDO:0013049 - DPM3-congenital disorder of glycosylation

References:

Genes:

MONDO:0011444 - Duane retraction syndrome 2

References:

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

References:

Genes:

MONDO:0025691 - dystonia 30

References:

Genes:

MONDO:0030486 - dystonia 32

References:

Genes:

MONDO:0030513 - dystonia 33

References:

Genes:

MONDO:0030958 - dystonia 35, childhood-onset

References:

Genes:

MONDO:0957385 - dystonia 37, early-onset, with striatal lesions

References:

Genes:

MONDO:0007495 - dystonia 5

References:

Genes:

MONDO:0015003 - dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

References:

Genes:

MONDO:0003441 - dystonic disorder

References:

Genes:

MONDO:0014233 - early-onset Parkinson disease 20

References:

Genes:

MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

References:

Genes:

MONDO:0970951 - El Hayek-Chahrour neurodevelopmental disorder

References:

Genes:

MONDO:0975801 - encephalopathy, acute transient

References:

Genes:

MONDO:0013726 - encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

References:

Genes:

MONDO:0060562 - encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

References:

Genes:

MONDO:0014960 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

References:

Genes:

MONDO:0020781 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

References:

Genes:

MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

References:

Genes:

MONDO:0005027 - epilepsy

References:

Genes:

MONDO:0015005 - epilepsy, early-onset, vitamin B6-dependent

References:

Genes:

MONDO:0013322 - epilepsy, familial adult myoclonic, 3

References:

Genes:

MONDO:0054846 - epilepsy, familial adult myoclonic, 6

References:

Genes:

MONDO:0024556 - epilepsy, familial focal, with variable foci 1

References:

Genes:

MONDO:0014924 - epilepsy, familial focal, with variable foci 2

References:

Genes:

MONDO:0014925 - epilepsy, familial focal, with variable foci 3

References:

Genes:

MONDO:0100087 - familial Alzheimer disease

References:

Genes:

MONDO:0007100 - familial amyloid neuropathy

References:

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

References:

Genes:

MONDO:0011789 - familial meningioma

References:

Genes:

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

References:

Genes:

MONDO:0018346 - ferro-cerebro-cutaneous syndrome

References:

Genes:

MONDO:0010590 - FG syndrome 1

References:

Genes:

MONDO:0010912 - fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

References:

Genes:

MONDO:0005384 - focal epilepsy

References:

Genes:

MONDO:0010659 - FRAXE intellectual disability

References:

Genes:

MONDO:0008675 - Freeman-Sheldon syndrome

References:

Genes:

MONDO:0100339 - Friedreich ataxia

References:

Genes:

MONDO:0100340 - Friedreich ataxia 1

References:

Genes:

MONDO:0014395 - frontotemporal dementia and/or amyotrophic lateral sclerosis 2

References:

Genes:

MONDO:0013501 - frontotemporal dementia and/or amyotrophic lateral sclerosis 6

References:

Genes:

MONDO:0010936 - frontotemporal dementia and/or amyotrophic lateral sclerosis 7

References:

Genes:

MONDO:0011730 - fumaric aciduria

References:

Genes:

MONDO:0014517 - generalized epilepsy with febrile seizures plus, type 9

References:

Genes:

MONDO:0014567 - glutamate pyruvate transaminase 2 deficiency

References:

Genes:

MONDO:0011612 - glycine encephalopathy

References:

Genes:

MONDO:0958179 - glycine encephalopathy 1

References:

Genes:

MONDO:0958192 - glycine encephalopathy 2

References:

Genes:

MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

References:

Genes:

MONDO:0008962 - Griscelli syndrome type 1

References:

Genes:

MONDO:0014805 - Hao-Fountain syndrome

References:

Genes:

MONDO:0958071 - Hao-Fountain syndrome due to USP7 mutation

References:

Genes:

MONDO:0033258 - hearing loss, autosomal dominant 71

References:

Genes:

MONDO:0032911 - hearing loss, autosomal dominant 75

References:

Genes:

MONDO:0032917 - hearing loss, autosomal dominant 76

References:

Genes:

MONDO:0030058 - hearing loss, autosomal dominant 77

References:

Genes:

MONDO:0033668 - hearing loss, autosomal dominant 79

References:

Genes:

MONDO:0030719 - hearing loss, autosomal dominant 82

References:

Genes:

MONDO:0859524 - hearing loss, autosomal dominant 86

References:

Genes:

MONDO:0859525 - hearing loss, autosomal dominant 87

References:

Genes:

MONDO:0019588 - hearing loss, autosomal recessive

References:

Genes:

MONDO:0032740 - hearing loss, autosomal recessive 100

References:

Genes:

MONDO:0033199 - hearing loss, autosomal recessive 107

References:

Genes:

MONDO:0032639 - hearing loss, autosomal recessive 112

References:

Genes:

MONDO:0032761 - hearing loss, autosomal recessive 114

References:

Genes:

MONDO:0032762 - hearing loss, autosomal recessive 115

References:

Genes:

MONDO:0958277 - hearing loss, autosomal recessive 123

References:

Genes:

MONDO:0032749 - hearing loss, autosomal recessive 94

References:

Genes:

MONDO:0010577 - hearing loss, X-linked 1

References:

Genes:

MONDO:0009748 - hereditary sensory and autonomic neuropathy with spastic paraplegia

References:

Genes:

MONDO:0013584 - hereditary sensory neuropathy-deafness-dementia syndrome

References:

Genes:

MONDO:0011408 - hereditary spastic paraplegia 10

References:

Genes:

MONDO:0011489 - hereditary spastic paraplegia 12

References:

Genes:

MONDO:0011532 - hereditary spastic paraplegia 13

References:

Genes:

MONDO:0010043 - hereditary spastic paraplegia 17

References:

Genes:

MONDO:0012256 - hereditary spastic paraplegia 28

References:

Genes:

MONDO:0012453 - hereditary spastic paraplegia 31

References:

Genes:

MONDO:0012866 - hereditary spastic paraplegia 35

References:

Genes:

MONDO:0012787 - hereditary spastic paraplegia 39

References:

Genes:

MONDO:0008438 - hereditary spastic paraplegia 4

References:

Genes:

MONDO:0012928 - hereditary spastic paraplegia 42

References:

Genes:

MONDO:0014018 - hereditary spastic paraplegia 54

References:

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

References:

Genes:

MONDO:0014305 - hereditary spastic paraplegia 63

References:

Genes:

MONDO:0014282 - hereditary spastic paraplegia 72

References:

Genes:

MONDO:0014644 - hereditary spastic paraplegia 74

References:

Genes:

MONDO:0014882 - hereditary spastic paraplegia 77

References:

Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

References:

Genes:

MONDO:0014602 - Hogue-Janssens syndrome 1

References:

Genes:

MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

References:

Genes:

MONDO:0026763 - holoprosencephaly 13, X-linked

References:

Genes:

MONDO:0030886 - holoprosencephaly 14

References:

Genes:

MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome

References:

Genes:

MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

References:

Genes:

MONDO:0032697 - Houge-Janssens syndrome 3

References:

Genes:

MONDO:0044330 - hyperekplexia 4

References:

Genes:

MONDO:0014632 - hypomyelinating leukodystrophy 10

References:

Genes:

MONDO:0014666 - hypomyelinating leukodystrophy 11

References:

Genes:

MONDO:0014732 - hypomyelinating leukodystrophy 12

References:

Genes:

MONDO:0014813 - hypomyelinating leukodystrophy 13

References:

Genes:

MONDO:0009843 - hypomyelinating leukodystrophy 3

References:

Genes:

MONDO:0012824 - hypomyelinating leukodystrophy 4

References:

Genes:

MONDO:0012905 - hypomyelinating leukodystrophy 6

References:

Genes:

MONDO:0013722 - hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

References:

Genes:

MONDO:0014115 - hypomyelination with brain stem and spinal cord involvement and leg spasticity

References:

Genes:

MONDO:0024567 - hypotonia, infantile, with psychomotor retardation and characteristic facies 1

References:

Genes:

MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

References:

Genes:

MONDO:0008178 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

References:

Genes:

MONDO:0013802 - infantile cerebellar-retinal degeneration

References:

Genes:

MONDO:0013351 - infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

References:

Genes:

MONDO:0018097 - infantile spasms

References:

Genes:

MONDO:0010532 - infantile-onset X-linked spinal muscular atrophy

References:

Genes:

MONDO:0019118 - inherited retinal dystrophy

References:

Genes:

MONDO:0032823 - intellectual developmental disorder 60 with seizures

References:

Genes:

MONDO:0032485 - intellectual developmental disorder 61

References:

Genes:

MONDO:0015022 - intellectual developmental disorder with dysmorphic facies and ptosis

References:

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

Genes:

MONDO:0976124 - intellectual developmental disorder with polymicrogyria and seizures

References:

Genes:

MONDO:0023657 - intellectual developmental disorder, autosomal dominant 65

References:

Genes:

MONDO:0030891 - intellectual developmental disorder, autosomal dominant 66

References:

Genes:

MONDO:0029465 - intellectual developmental disorder, autosomal dominant 69

References:

Genes:

MONDO:0859333 - intellectual developmental disorder, autosomal dominant 70

References:

Genes:

MONDO:0957397 - intellectual developmental disorder, autosomal dominant 72

References:

Genes:

MONDO:0957536 - intellectual developmental disorder, autosomal dominant 73

References:

Genes:

MONDO:0958203 - intellectual developmental disorder, autosomal dominant 74

References:

Genes:

MONDO:0032662 - intellectual developmental disorder, autosomal recessive 67

References:

Genes:

MONDO:0032665 - intellectual developmental disorder, autosomal recessive 68

References:

Genes:

MONDO:0032789 - intellectual developmental disorder, autosomal recessive 71

References:

Genes:

MONDO:0030533 - intellectual developmental disorder, autosomal recessive 73

References:

Genes:

MONDO:0957288 - intellectual developmental disorder, autosomal recessive 79

References:

Genes:

MONDO:0958204 - intellectual developmental disorder, autosomal recessive 81

References:

Genes:

MONDO:0026723 - intellectual developmental disorder, X-linked 108

References:

Genes:

MONDO:0958200 - intellectual developmental disorder, X-linked 113

References:

Genes:

MONDO:0975828 - intellectual developmental disorder, X-linked 114

References:

Genes:

MONDO:0001071 - intellectual disability

References:

Genes:

MONDO:0013805 - intellectual disability, autosomal dominant 13

References:

Genes:

MONDO:0014580 - intellectual disability, autosomal dominant 33

References:

Genes:

MONDO:0014617 - intellectual disability, autosomal dominant 38

References:

Genes:

MONDO:0014842 - intellectual disability, autosomal dominant 41

References:

Genes:

MONDO:0014855 - intellectual disability, autosomal dominant 42

References:

Genes:

MONDO:0030912 - intellectual disability, autosomal dominant 47

References:

Genes:

MONDO:0030916 - intellectual disability, autosomal dominant 50

References:

Genes:

MONDO:0030917 - intellectual disability, autosomal dominant 51

References:

Genes:

MONDO:0030921 - intellectual disability, autosomal dominant 55, with seizures

References:

Genes:

MONDO:0030922 - intellectual disability, autosomal dominant 56

References:

Genes:

MONDO:0020847 - intellectual disability, autosomal dominant 58

References:

Genes:

MONDO:0013656 - intellectual disability, autosomal dominant 9

References:

Genes:

MONDO:0013173 - intellectual disability, autosomal recessive 13

References:

Genes:

MONDO:0013528 - intellectual disability, autosomal recessive 14

References:

Genes:

MONDO:0014348 - intellectual disability, autosomal recessive 42

References:

Genes:

MONDO:0014409 - intellectual disability, autosomal recessive 44

References:

Genes:

MONDO:0012613 - intellectual disability, autosomal recessive 5

References:

Genes:

MONDO:0014649 - intellectual disability, autosomal recessive 50

References:

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

References:

Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

References:

Genes:

MONDO:0014930 - intellectual disability, autosomal recessive 56

References:

Genes:

MONDO:0014996 - intellectual disability, autosomal recessive 58

References:

Genes:

MONDO:0015020 - intellectual disability, autosomal recessive 59

References:

Genes:

MONDO:0044313 - intellectual disability, autosomal recessive 60

References:

Genes:

MONDO:0020850 - intellectual disability, autosomal recessive 65

References:

Genes:

MONDO:0012615 - intellectual disability, autosomal recessive 7

References:

Genes:

MONDO:0010497 - intellectual disability, X-linked 102

References:

Genes:

MONDO:0049222 - intellectual disability, X-linked 107

References:

Genes:

MONDO:0010447 - intellectual disability, X-linked 19

References:

Genes:

MONDO:0010361 - intellectual disability, X-linked 30

References:

Genes:

MONDO:0010451 - intellectual disability, X-linked 41

References:

Genes:

MONDO:0010250 - intellectual disability, X-linked 49

References:

Genes:

MONDO:0010313 - intellectual disability, X-linked 63

References:

Genes:

MONDO:0010660 - intellectual disability, X-linked 9

References:

Genes:

MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type

References:

Genes:

MONDO:0010500 - intellectual disability, X-linked, syndromic 33

References:

Genes:

MONDO:0030908 - intellectual disability, X-linked, syndromic, 35

References:

Genes:

MONDO:0030909 - intellectual disability, X-linked, syndromic, Houge type

References:

Genes:

MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

References:

Genes:

MONDO:0008939 - isolated cerebellar hypoplasia/agenesis

References:

Genes:

MONDO:0011818 - isolated focal cortical dysplasia type II

References:

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

References:

Genes:

MONDO:0975795 - Kariminejad neurodevelopmental syndrome

References:

Genes:

MONDO:0100119 - Knobloch syndrome 2

References:

Genes:

MONDO:0011706 - Kufor-Rakeb syndrome

References:

Genes:

MONDO:0008199 - late-onset Parkinson disease

References:

Genes:

MONDO:0018998 - Leber congenital amaurosis

References:

Genes:

MONDO:0013454 - Leber congenital amaurosis 11

References:

Genes:

MONDO:0012990 - Leber congenital amaurosis 13

References:

Genes:

MONDO:0032794 - Leber congenital amaurosis 19

References:

Genes:

MONDO:0012056 - Leber congenital amaurosis 9

References:

Genes:

MONDO:0060650 - Leber congenital amaurosis with early-onset deafness

References:

Genes:

MONDO:0009723 - Leigh syndrome

References:

Genes:

MONDO:0016532 - Lennox-Gastaut syndrome

References:

Genes:

MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

References:

Genes:

MONDO:0859246 - leukodystrophy, childhood-onset, remitting

References:

Genes:

MONDO:0054782 - leukodystrophy, hypomyelinating, 15

References:

Genes:

MONDO:0054791 - leukodystrophy, hypomyelinating, 16

References:

Genes:

MONDO:0032730 - leukodystrophy, hypomyelinating, 18

References:

Genes:

MONDO:0032871 - leukodystrophy, hypomyelinating, 19, transient infantile

References:

Genes:

MONDO:0030263 - leukodystrophy, hypomyelinating, 21

References:

Genes:

MONDO:0958018 - leukodystrophy, hypomyelinating, 27

References:

Genes:

MONDO:0011897 - leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

References:

Genes:

MONDO:0012622 - leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

References:

Genes:

MONDO:0020507 - leukoencephalopathy with vanishing white matter 1

References:

Genes:

MONDO:0957870 - leukoencephalopathy with vanishing white matter 2

References:

Genes:

MONDO:0957871 - leukoencephalopathy with vanishing white matter 3

References:

Genes:

MONDO:0957872 - leukoencephalopathy with vanishing white matter 4

References:

Genes:

MONDO:0957873 - leukoencephalopathy with vanishing white matter 5

References:

Genes:

MONDO:0030634 - leukoencephalopathy, hereditary diffuse, with spheroids 2

References:

Genes:

MONDO:0958226 - leukoencephalopathy, porphyria-related

References:

Genes:

MONDO:0014387 - leukoencephalopathy, progressive, with ovarian failure

References:

Genes:

MONDO:0013971 - leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

References:

Genes:

MONDO:0018875 - Li-Fraumeni syndrome

References:

Genes:

MONDO:0008097 - linear nevus sebaceous syndrome

References:

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

References:

Genes:

MONDO:0014596 - lissencephaly 7 with cerebellar hypoplasia

References:

Genes:

MONDO:0012703 - lissencephaly due to TUBA1A mutation

References:

Genes:

MONDO:0018838 - lissencephaly spectrum disorders

References:

Genes:

MONDO:0014025 - lower motor neuron syndrome with late-adult onset

References:

Genes:

MONDO:0014716 - macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

References:

Genes:

MONDO:0009567 - Marinesco-Sjogren syndrome

References:

Genes:

MONDO:0016814 - maternally-inherited Leigh syndrome

References:

Genes:

MONDO:0007959 - medulloblastoma

References:

Genes:

MONDO:0011246 - megaconial type congenital muscular dystrophy

References:

Genes:

MONDO:0010258 - MEHMO syndrome

References:

Genes:

MONDO:0018868 - metachromatic leukodystrophy

References:

Genes:

MONDO:0010184 - methylmalonic aciduria and homocystinuria type cblC

References:

Genes:

MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II

References:

Genes:

MONDO:0001149 - microcephaly

References:

Genes:

MONDO:0054593 - microcephaly 18, primary, autosomal dominant

References:

Genes:

MONDO:0054716 - microcephaly 19, primary, autosomal recessive

References:

Genes:

MONDO:0054761 - microcephaly 20, primary, autosomal recessive

References:

Genes:

MONDO:0054804 - microcephaly 21, primary, autosomal recessive

References:

Genes:

MONDO:0054806 - microcephaly 23, primary, autosomal recessive

References:

Genes:

MONDO:0032583 - microcephaly 24, primary, autosomal recessive

References:

Genes:

MONDO:0030339 - microcephaly 28, primary, autosomal recessive

References:

Genes:

MONDO:0031060 - microcephaly 29, primary, autosomal recessive

References:

Genes:

MONDO:0011488 - microcephaly 3, primary, autosomal recessive

References:

Genes:

MONDO:0859342 - microcephaly 30, primary, autosomal recessive

References:

Genes:

MONDO:0011437 - microcephaly 4, primary, autosomal recessive

References:

Genes:

MONDO:0009624 - microcephaly and chorioretinopathy 1

References:

Genes:

MONDO:0014592 - microcephaly and chorioretinopathy 3

References:

Genes:

MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

References:

Genes:

MONDO:0013254 - microcephaly, seizures, and developmental delay

References:

Genes:

MONDO:0010671 - microphthalmia, syndromic 1

References:

Genes:

MONDO:0013790 - mirror movements 2

References:

Genes:

MONDO:0010159 - mismatch repair cancer syndrome 1

References:

Genes:

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

Genes:

MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

References:

Genes:

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

References:

Genes:

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

References:

Genes:

MONDO:0975848 - Morimoto-Ryu-Malicdan neuromuscular syndrome

References:

Genes:

MONDO:0020128 - motor neuron disorder

References:

Genes:

MONDO:0013542 - Moyamoya disease 5

References:

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

Genes:

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

References:

Genes:

MONDO:0020121 - muscular dystrophy

References:

Genes:

MONDO:0009682 - muscular dystrophy, congenital, with rapid progression

References:

Genes:

MONDO:0957270 - muscular dystrophy, limb-girdle, autosomal recessive 28

References:

Genes:

MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

References:

Genes:

MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

References:

Genes:

MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

References:

Genes:

MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

References:

Genes:

MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

References:

Genes:

MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

References:

Genes:

MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

References:

Genes:

MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A

References:

Genes:

MONDO:0032596 - myasthenic syndrome, congenital, 23, presynaptic

References:

Genes:

MONDO:0008050 - MYH7-related skeletal myopathy

References:

Genes:

MONDO:0000903 - myoclonus-dystonia syndrome

References:

Genes:

MONDO:0012130 - myofibrillar myopathy 2

References:

Genes:

MONDO:0009709 - myopathy, centronuclear, 2

References:

Genes:

MONDO:0014877 - myopathy, distal, 5

References:

Genes:

MONDO:0976133 - myopathy, myofibrillar, 13, with rimmed vacuoles

References:

Genes:

MONDO:0011266 - myotonic dystrophy type 2

References:

Genes:

MONDO:0034121 - NAD(P)HX dehydratase deficiency

References:

Genes:

MONDO:0009725 - nemaline myopathy 2

References:

Genes:

MONDO:0012538 - nemaline myopathy 7

References:

Genes:

MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

References:

Genes:

MONDO:0009736 - Neu-Laxova syndrome 1

References:

Genes:

MONDO:0014466 - Neu-Laxova syndrome 2

References:

Genes:

MONDO:0011120 - neural tube defects, folate-sensitive

References:

Genes:

MONDO:0009578 - neurocutaneous melanocytosis

References:

Genes:

MONDO:0957211 - neurodegeneration and seizures due to copper transport defect

References:

Genes:

MONDO:0031006 - neurodegeneration with ataxia and late-onset optic atrophy

References:

Genes:

MONDO:0010476 - neurodegeneration with brain iron accumulation 5

References:

Genes:

MONDO:0014290 - neurodegeneration with brain iron accumulation 6

References:

Genes:

MONDO:0957225 - neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

References:

Genes:

MONDO:0030028 - neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

References:

Genes:

MONDO:0957985 - neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

References:

Genes:

MONDO:0030947 - neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

References:

Genes:

MONDO:0859304 - neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction

References:

Genes:

MONDO:0859241 - neurodegeneration, childhood-onset, with progressive microcephaly

References:

Genes:

MONDO:0976236 - neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment

References:

Genes:

MONDO:0700092 - neurodevelopmental disorder

References:

Genes:

MONDO:0030046 - neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity

References:

Genes:

MONDO:0968947 - neurodevelopmental disorder plus optic atrophy

References:

Genes:

MONDO:0033642 - neurodevelopmental disorder with alopecia and brain abnormalities

References:

Genes:

MONDO:0060624 - neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

References:

Genes:

MONDO:0032888 - neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies

References:

Genes:

MONDO:0030866 - neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

References:

Genes:

MONDO:0032790 - neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

References:

Genes:

MONDO:0859141 - neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

References:

Genes:

MONDO:0060596 - neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

References:

Genes:

MONDO:0859361 - neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia

References:

Genes:

MONDO:0859179 - neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

References:

Genes:

MONDO:0031011 - neurodevelopmental disorder with dysmorphic facies and variable seizures

References:

Genes:

MONDO:0030852 - neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

References:

Genes:

MONDO:0859258 - neurodevelopmental disorder with dystonia and seizures

References:

Genes:

MONDO:0859265 - neurodevelopmental disorder with epilepsy and brain atrophy

References:

Genes:

MONDO:0060761 - neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum

References:

Genes:

MONDO:0032894 - neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

References:

Genes:

MONDO:0958240 - neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities

References:

Genes:

MONDO:0859187 - neurodevelopmental disorder with hypotonia and brain abnormalities

References:

Genes:

MONDO:0030037 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

References:

Genes:

MONDO:0958278 - neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

References:

Genes:

MONDO:0859185 - neurodevelopmental disorder with hypotonia and dysmorphic facies

References:

Genes:

MONDO:0957541 - neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

References:

Genes:

MONDO:0032829 - neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

References:

Genes:

MONDO:0859347 - neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

References:

Genes:

MONDO:0971043 - neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities

References:

Genes:

MONDO:0030025 - neurodevelopmental disorder with hypotonia, microcephaly, and seizures

References:

Genes:

MONDO:0976131 - neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

References:

Genes:

MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

References:

Genes:

MONDO:0957588 - neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

References:

Genes:

MONDO:0859162 - neurodevelopmental disorder with infantile epileptic spasms

References:

Genes:

MONDO:0060491 - neurodevelopmental disorder with involuntary movements

References:

Genes:

MONDO:0968945 - neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

References:

Genes:

MONDO:0957531 - neurodevelopmental disorder with microcephaly and movement abnormalities

References:

Genes:

MONDO:0957218 - neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities

References:

Genes:

MONDO:0032779 - neurodevelopmental disorder with microcephaly and structural brain anomalies

References:

Genes:

MONDO:0060577 - neurodevelopmental disorder with microcephaly, ataxia, and seizures

References:

Genes:

MONDO:0859293 - neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment

References:

Genes:

MONDO:0060640 - neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

References:

Genes:

MONDO:0032705 - neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

References:

Genes:

MONDO:0859287 - neurodevelopmental disorder with microcephaly, hypotonia, and absent language

References:

Genes:

MONDO:0060490 - neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

References:

Genes:

MONDO:0859250 - neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

References:

Genes:

MONDO:0100348 - neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

References:

Genes:

MONDO:0030837 - neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

References:

Genes:

MONDO:0859282 - neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures

References:

Genes:

MONDO:0033662 - neurodevelopmental disorder with microcephaly, seizures, and brain atrophy

References:

Genes:

MONDO:0060621 - neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

References:

Genes:

MONDO:0859285 - neurodevelopmental disorder with microcephaly, short stature, and speech delay

References:

Genes:

MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

References:

Genes:

MONDO:0030994 - neurodevelopmental disorder with or without autism or seizures

References:

Genes:

MONDO:0859377 - neurodevelopmental disorder with poor growth and behavioral abnormalities

References:

Genes:

MONDO:0976130 - neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies

References:

Genes:

MONDO:0976265 - neurodevelopmental disorder with poor growth, seizures, and brain abnormalities

References:

Genes:

MONDO:0859296 - neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

References:

Genes:

MONDO:0060502 - neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

References:

Genes:

MONDO:0859188 - neurodevelopmental disorder with seizures and brain abnormalities

References:

Genes:

MONDO:0033658 - neurodevelopmental disorder with seizures and brain atrophy

References:

Genes:

MONDO:0032775 - neurodevelopmental disorder with seizures and speech and walking impairment

References:

Genes:

MONDO:0859266 - neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

References:

Genes:

MONDO:0859295 - neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

References:

Genes:

MONDO:0060704 - neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

References:

Genes:

MONDO:0032849 - neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

References:

Genes:

MONDO:0859137 - neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia

References:

Genes:

MONDO:0859275 - neurodevelopmental disorder with spasticity, seizures, and brain abnormalities

References:

Genes:

MONDO:0859272 - neurodevelopmental disorder with speech delay and variable ocular anomalies

References:

Genes:

MONDO:0033630 - neurodevelopmental disorder with speech impairment and dysmorphic facies

References:

Genes:

MONDO:0976125 - neurodevelopmental disorder with speech or visual impairment and brain hypomyelination

References:

Genes:

MONDO:0976263 - neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language

References:

Genes:

MONDO:0975877 - neurodevelopmental disorder with variable familial hypercholanemia

References:

Genes:

MONDO:0032807 - neurodevelopmental disorder with visual defects and brain anomalies

References:

Genes:

MONDO:0060578 - neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

References:

Genes:

MONDO:0009744 - neuronal ceroid lipofuscinosis 1

References:

Genes:

MONDO:0008767 - neuronal ceroid lipofuscinosis 3

References:

Genes:

MONDO:0971150 - neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

References:

Genes:

MONDO:0030055 - neuronopathy, distal hereditary motor, autosomal recessive 8

References:

Genes:

MONDO:0957874 - neuronopathy, distal hereditary motor, autosomal recessive 9

References:

Genes:

MONDO:0008025 - neuronopathy, distal hereditary motor, type 2A

References:

Genes:

MONDO:0012080 - neuronopathy, distal hereditary motor, type 2B

References:

Genes:

MONDO:0013243 - neuronopathy, distal hereditary motor, type 2C

References:

Genes:

MONDO:0015353 - neuronopathy, distal hereditary motor, type 5A

References:

Genes:

MONDO:0013884 - neuronopathy, distal hereditary motor, type 5B

References:

Genes:

MONDO:0030860 - neuronopathy, distal hereditary motor, type 5C

References:

Genes:

MONDO:0011879 - neuronopathy, distal hereditary motor, type 7B

References:

Genes:

MONDO:0060585 - neuronopathy, distal hereditary motor, type 9

References:

Genes:

MONDO:0011002 - neuropathy, hereditary motor and sensory, type 6A

References:

Genes:

MONDO:0032792 - neuropathy, hereditary motor and sensory, type VIc, with optic atrophy

References:

Genes:

MONDO:0008086 - neuropathy, hereditary sensory and autonomic, type 1A

References:

Genes:

MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C

References:

Genes:

MONDO:0013634 - neuropathy, hereditary sensory, type 2C

References:

Genes:

MONDO:0011871 - Niemann-Pick disease type B

References:

Genes:

MONDO:0019181 - non-syndromic X-linked intellectual disability

References:

Genes:

MONDO:0019497 - nonsyndromic genetic hearing loss

References:

Genes:

MONDO:0958176 - oculopharyngeal muscular dystrophy 1

References:

Genes:

MONDO:0010457 - Ogden syndrome

References:

Genes:

MONDO:0014893 - Okur-Chung neurodevelopmental syndrome

References:

Genes:

MONDO:0003608 - optic atrophy

References:

Genes:

MONDO:0020737 - optic atrophy 10 with or without ataxia, intellectual disability, and seizures

References:

Genes:

MONDO:0015011 - optic atrophy 11

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

MONDO:0008135 - optic atrophy 13 with retinal and foveal abnormalities

References:

Genes:

MONDO:0957935 - optic atrophy 15

References:

Genes:

MONDO:0957978 - optic atrophy 16

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0012543 - optic atrophy 5

References:

Genes:

MONDO:0014571 - optic atrophy 9

References:

Genes:

MONDO:0007429 - optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

References:

Genes:

MONDO:0009796 - ornithine aminotransferase deficiency

References:

Genes:

MONDO:0100283 - overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

References:

Genes:

MONDO:0008759 - oxoglutaricaciduria

References:

Genes:

MONDO:0000448 - paraganglioma

References:

Genes:

MONDO:0859249 - parenti-mignot neurodevelopmental syndrome

References:

Genes:

MONDO:0005180 - Parkinson disease

References:

Genes:

MONDO:0013625 - Parkinson disease 17

References:

Genes:

MONDO:0014742 - Parkinson disease 22, autosomal dominant

References:

Genes:

MONDO:0957576 - Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development

References:

Genes:

MONDO:0030676 - parkinsonism-dystonia 3, childhood-onset

References:

Genes:

MONDO:0009841 - PEHO syndrome

References:

Genes:

MONDO:0011966 - periventricular heterotopia with microcephaly, autosomal recessive

References:

Genes:

MONDO:0020341 - periventricular nodular heterotopia

References:

Genes:

MONDO:0014966 - periventricular nodular heterotopia 7

References:

Genes:

MONDO:0032588 - periventricular nodular heterotopia 8

References:

Genes:

MONDO:0013948 - peroxisome biogenesis disorder 10A (Zellweger)

References:

Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

References:

Genes:

MONDO:0013949 - peroxisome biogenesis disorder 11A (Zellweger)

References:

Genes:

MONDO:0013950 - peroxisome biogenesis disorder 11B

References:

Genes:

MONDO:0013951 - peroxisome biogenesis disorder 12A (Zellweger)

References:

Genes:

MONDO:0013952 - peroxisome biogenesis disorder 13A (Zellweger)

References:

Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

References:

Genes:

MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

References:

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

References:

Genes:

MONDO:0008954 - peroxisome biogenesis disorder 2A (Zellweger)

References:

Genes:

MONDO:0008736 - peroxisome biogenesis disorder 2B

References:

Genes:

MONDO:0013927 - peroxisome biogenesis disorder 3A (Zellweger)

References:

Genes:

MONDO:0013930 - peroxisome biogenesis disorder 4A (Zellweger)

References:

Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

References:

Genes:

MONDO:0013936 - peroxisome biogenesis disorder 6A (Zellweger)

References:

Genes:

MONDO:0013937 - peroxisome biogenesis disorder 6B

References:

Genes:

MONDO:0013938 - peroxisome biogenesis disorder 7A (Zellweger)

References:

Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

References:

Genes:

MONDO:0013942 - peroxisome biogenesis disorder 8A (Zellweger)

References:

Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

References:

Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

References:

Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

References:

Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

References:

Genes:

MONDO:0008201 - Perry syndrome

References:

Genes:

MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1

References:

Genes:

MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

References:

Genes:

MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

References:

Genes:

MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

References:

Genes:

MONDO:0013602 - pheochromocytoma/paraganglioma syndrome 5

References:

Genes:

MONDO:0032771 - pheochromocytoma/paraganglioma syndrome 7

References:

Genes:

MONDO:0011213 - Pierpont syndrome

References:

Genes:

MONDO:0032889 - Poirier-Bienvenu neurodevelopmental syndrome

References:

Genes:

MONDO:0014679 - polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

References:

Genes:

MONDO:0020135 - pontocerebellar hypoplasia

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0014349 - pontocerebellar hypoplasia type 10

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0010190 - pontocerebellar hypoplasia type 2A

References:

Genes:

MONDO:0012890 - pontocerebellar hypoplasia type 2B

References:

Genes:

MONDO:0012891 - pontocerebellar hypoplasia type 2C

References:

Genes:

MONDO:0014370 - pontocerebellar hypoplasia type 2E

References:

Genes:

MONDO:0009166 - pontocerebellar hypoplasia type 4

References:

Genes:

MONDO:0012438 - pontocerebellar hypoplasia type 5

References:

Genes:

MONDO:0012683 - pontocerebellar hypoplasia type 6

References:

Genes:

MONDO:0013990 - pontocerebellar hypoplasia type 8

References:

Genes:

MONDO:0014351 - pontocerebellar hypoplasia type 9

References:

Genes:

MONDO:0032643 - pontocerebellar hypoplasia, type 12

References:

Genes:

MONDO:0032831 - pontocerebellar hypoplasia, type 13

References:

Genes:

MONDO:0030258 - pontocerebellar hypoplasia, type 14

References:

Genes:

MONDO:0030259 - pontocerebellar hypoplasia, type 15

References:

Genes:

MONDO:0030438 - pontocerebellar hypoplasia, type 16

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0054844 - pontocerebellar hypoplasia, type 1D

References:

Genes:

MONDO:0030261 - pontocerebellar hypoplasia, type 1F

References:

Genes:

MONDO:0014874 - pontocerebellar hypoplasia, type 2F

References:

Genes:

MONDO:0014754 - primary coenzyme Q10 deficiency 8

References:

Genes:

MONDO:0013382 - progressive demyelinating neuropathy with bilateral striatal necrosis

References:

Genes:

MONDO:0005181 - progressive external ophthalmoplegia

References:

Genes:

MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

References:

Genes:

MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

References:

Genes:

MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

References:

Genes:

MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

References:

Genes:

MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

References:

Genes:

MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

References:

Genes:

MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

References:

Genes:

MONDO:0013526 - progressive myoclonic epilepsy type 6

References:

Genes:

MONDO:0020074 - progressive myoclonus epilepsy

References:

Genes:

MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

References:

Genes:

MONDO:0044726 - psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

References:

Genes:

MONDO:0012407 - pyridoxal phosphate-responsive seizures

References:

Genes:

MONDO:0019169 - pyruvate dehydrogenase deficiency

References:

Genes:

MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

References:

Genes:

MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

References:

Genes:

MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

References:

Genes:

MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

References:

Genes:

MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

References:

Genes:

MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

References:

Genes:

MONDO:0013624 - Rafiq syndrome

References:

Genes:

MONDO:0019200 - retinitis pigmentosa

References:

Genes:

MONDO:0008379 - retinitis pigmentosa 10

References:

Genes:

MONDO:0010828 - retinitis pigmentosa 11

References:

Genes:

MONDO:0010806 - retinitis pigmentosa 13

References:

Genes:

MONDO:0011075 - retinitis pigmentosa 18

References:

Genes:

MONDO:0010723 - retinitis pigmentosa 2

References:

Genes:

MONDO:0012363 - retinitis pigmentosa 32

References:

Genes:

MONDO:0012477 - retinitis pigmentosa 33

References:

Genes:

MONDO:0012943 - retinitis pigmentosa 46

References:

Genes:

MONDO:0013468 - retinitis pigmentosa 59

References:

Genes:

MONDO:0013516 - retinitis pigmentosa 60

References:

Genes:

MONDO:0013611 - retinitis pigmentosa 62

References:

Genes:

MONDO:0014256 - retinitis pigmentosa 67

References:

Genes:

MONDO:0014323 - retinitis pigmentosa 68

References:

Genes:

MONDO:0014400 - retinitis pigmentosa 70

References:

Genes:

MONDO:0015013 - retinitis pigmentosa 77

References:

Genes:

MONDO:0044320 - retinitis pigmentosa 79

References:

Genes:

MONDO:0032604 - retinitis pigmentosa 84

References:

Genes:

MONDO:0033563 - retinitis pigmentosa 90

References:

Genes:

MONDO:0013224 - rhabdoid tumor predisposition syndrome 2

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes:

MONDO:0012073 - ribose-5-P isomerase deficiency

References:

Genes:

MONDO:0009131 - Riley-Day syndrome

References:

Genes:

MONDO:0005090 - schizophrenia

References:

Genes:

MONDO:0013498 - schizophrenia 15

References:

Genes:

MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

References:

Genes:

MONDO:0010334 - severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

References:

Genes:

MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

References:

Genes:

MONDO:0024517 - SMARCB1-related schwannomatosis

References:

Genes:

MONDO:0958009 - spastic ataxia 10, autosomal recessive

References:

Genes:

MONDO:0012651 - spastic ataxia 2

References:

Genes:

MONDO:0012664 - spastic ataxia 3

References:

Genes:

MONDO:0013354 - spastic ataxia 4

References:

Genes:

MONDO:0013776 - spastic ataxia 5

References:

Genes:

MONDO:0971149 - spastic paraplegia 30B, autosomal recessive

References:

Genes:

MONDO:0957958 - spastic paraplegia 72b, autosomal recessive

References:

Genes:

MONDO:0032906 - spastic paraplegia 82, autosomal recessive

References:

Genes:

MONDO:0030482 - spastic paraplegia 84, autosomal recessive

References:

Genes:

MONDO:0030512 - spastic paraplegia 85, autosomal recessive

References:

Genes:

MONDO:0031019 - spastic paraplegia 87, autosomal recessive

References:

Genes:

MONDO:0957308 - spastic paraplegia 90A, autosomal dominant

References:

Genes:

MONDO:0957309 - spastic paraplegia 90B, autosomal recessive

References:

Genes:

MONDO:0975796 - spastic paraplegia 93, autosomal recessive

References:

Genes:

MONDO:0014803 - spasticity-ataxia-gait anomalies syndrome

References:

Genes:

MONDO:0008449 - spina bifida

References:

Genes:

MONDO:0001892 - spinal cord lymphoma

References:

Genes:

MONDO:0014806 - spinal muscular atrophy with congenital bone fractures 1

References:

Genes:

MONDO:0014807 - spinal muscular atrophy with congenital bone fractures 2

References:

Genes:

MONDO:0859279 - spinal muscular atrophy, distal, autosomal recessive, 6

References:

Genes:

MONDO:0009669 - spinal muscular atrophy, type 1

References:

Genes:

MONDO:0009673 - spinal muscular atrophy, type II

References:

Genes:

MONDO:0009672 - spinal muscular atrophy, type III

References:

Genes:

MONDO:0010056 - spinal muscular atrophy, type IV

References:

Genes:

MONDO:0016163 - spinocerebellar ataxia 7

References:

Genes:

MONDO:0011330 - spinocerebellar ataxia type 10

References:

Genes:

MONDO:0011439 - spinocerebellar ataxia type 12

References:

Genes:

MONDO:0011781 - spinocerebellar ataxia type 17

References:

Genes:

MONDO:0008458 - spinocerebellar ataxia type 2

References:

Genes:

MONDO:0012246 - spinocerebellar ataxia type 26

References:

Genes:

MONDO:0012450 - spinocerebellar ataxia type 28

References:

Genes:

MONDO:0007574 - spinocerebellar ataxia type 34

References:

Genes:

MONDO:0013594 - spinocerebellar ataxia type 36

References:

Genes:

MONDO:0014417 - spinocerebellar ataxia type 38

References:

Genes:

MONDO:0014934 - spinocerebellar ataxia, autosomal recessive 24

References:

Genes:

MONDO:0033115 - spinocerebellar ataxia, autosomal recessive 25

References:

Genes:

MONDO:0032923 - spinocerebellar ataxia, autosomal recessive 28

References:

Genes:

MONDO:0030312 - spinocerebellar ataxia, autosomal recessive 29

References:

Genes:

MONDO:0030318 - spinocerebellar ataxia, autosomal recessive 30

References:

Genes:

MONDO:0030323 - spinocerebellar ataxia, autosomal recessive 31

References:

Genes:

MONDO:0011801 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

References:

Genes:

MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

References:

Genes:

MONDO:0031007 - spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

References:

Genes:

MONDO:0032566 - squalene synthase deficiency

References:

Genes:

MONDO:0054591 - Stankiewicz-Isidor syndrome

References:

Genes:

MONDO:0010819 - Stargardt disease 3

References:

Genes:

MONDO:0003122 - striatonigral degeneration

References:

Genes:

MONDO:0014889 - striatonigral degeneration, childhood-onset

References:

Genes:

MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

References:

Genes:

MONDO:0010398 - syndromic X-linked intellectual disability 14

References:

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

References:

Genes:

MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

References:

Genes:

MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

References:

Genes:

MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

References:

Genes:

MONDO:0014848 - TELO2-related intellectual disability-neurodevelopmental disorder

References:

Genes:

MONDO:0007493 - torsion dystonia 4

References:

Genes:

MONDO:0030517 - trichothiodystrophy 8, nonphotosensitive

References:

Genes:

MONDO:0001734 - tuberous sclerosis

References:

Genes:

MONDO:0008612 - tuberous sclerosis 1

References:

Genes:

MONDO:0013199 - tuberous sclerosis 2

References:

Genes:

MONDO:0018614 - undetermined early-onset epileptic encephalopathy

References:

Genes:

MONDO:0100144 - Uner Tan Syndrome

References:

Genes:

MONDO:0014296 - Warburg micro syndrome 4

References:

Genes:

MONDO:0008678 - Williams syndrome

References:

Genes:

MONDO:0010665 - Wilson-Turner syndrome

References:

Genes:

MONDO:0010338 - X-linked distal spinal muscular atrophy type 3

References:

Genes:

MONDO:0010747 - X-linked dystonia-parkinsonism

References:

Genes:

MONDO:0010378 - X-linked hereditary sensory and autonomic neuropathy with hearing loss

References:

Genes:

MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

References:

Genes:

MONDO:0010306 - X-linked intellectual disability, Cabezas type

References:

Genes:

MONDO:0015601 - X-linked intellectual disability, van Esch type

References:

Genes:

MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

References:

Genes:

MONDO:0010684 - X-linked myopathy with excessive autophagy

References:

Genes:

MONDO:0010547 - X-linked progressive cerebellar ataxia

References:

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

References:

Genes:

MONDO:0010524 - X-linked sideroblastic anemia with ataxia

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes: