Hereditary disorder of nervous system

Code	`363235000`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

6988700082-hydroxyglutaric aciduria disorder

7910001241072-methyl-3-hydroxybutyric aciduria disorder

78309100346,XY gonadal dysgenesis, motor and sensory neuropathy syndrome disorder

783160006AGel amyloidosis disorder

718576001Aase Smith type 1 syndrome disorder

733068001Absent tibia, polydactyly, arachnoid cyst syndrome disorder

715951007Acrocallosal syndrome disorder

764453009Action myoclonus renal failure syndrome disorder

783242003Adult-onset cervical dystonia DYT23 type disorder

725464001Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy disorder

720466001Adult-onset dystonia parkinsonism disorder

763797003Agenesis of corpus callosum and abnormal genitalia syndrome disorder

722282008Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome disorder

80651009Aicardi's syndrome disorder

722285005Albinism with deafness syndrome disorder

1351836007Alkuraya Kucinskas syndrome disorder

788417006Alopecia, epilepsy, intellectual disability syndrome Moynahan type disorder

770941005Alopecia, progressive neurological defect, endocrinopathy syndrome disorder

109478007Amelocerebrohypohidrotic syndrome disorder

63135006Amyotonia congenita disorder

1201863001Amyotrophic lateral sclerosis type 1 disorder

1208412003Amyotrophic lateral sclerosis type 10 disorder

1201950008Amyotrophic lateral sclerosis type 3 disorder

1204350002Amyotrophic lateral sclerosis type 8 disorder

1204351003Amyotrophic lateral sclerosis type 9 disorder

422348008Andersen Tawil syndrome disorder

702442008Ataxia with vitamin E deficiency disorder

68504005Ataxia-telangiectasia syndrome disorder

720518006Athabaskan brainstem dysgenesis syndrome disorder

720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome disorder

771448004Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency disorder

1156837002Autosomal dominant distal hereditary motor neuropathy disorder

715768000Autosomal dominant dopa responsive dystonia disorder

719516000Autosomal dominant focal dystonia DYT25 type disorder

1296914004Autosomal dominant hereditary vasopressin deficiency disorder

230319002Autosomal dominant idiopathic familial dystonia disorder

827115000Autosomal dominant progressive external ophthalmoplegia disorder

711406009Autosomal recessive axonal neuropathy with neuromyotonia disorder

1156850001Autosomal recessive distal hereditary motor neuropathy disorder

773394007Autosomal recessive frontotemporal pachygyria disorder

1296915003Autosomal recessive hereditary arginine vasopressin deficiency disorder

230320008Autosomal recessive idiopathic familial dystonia disorder

770901001Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome disorder

771476007Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome disorder

827117008Autosomal recessive progressive external ophthalmoplegia disorder

81780002Beckwith-Wiedemann syndrome disorder

715465001Bedouin spastic ataxia syndrome disorder

717859007Beemer Ertbruggen syndrome disorder

230306001Benign hereditary chorea disorder

732959007Beta-propeller protein-associated neurodegeneration disorder

890286007Bilateral frontoparietal polymicrogyria disorder

703522009Biotin-thiamine-responsive basal ganglia disease disorder

21634003Borjeson-Forssman-Lehmann syndrome disorder

717942003Brain dopamine-serotonin vesicular transport disease disorder

699866005Brown-Vialetto-Van Laere syndrome disorder

722385008CEDNIK syndrome disorder

1172691004CLCN4-related X-linked intellectual disability syndrome disorder

1230376005CNTNAP2-related developmental and epileptic encephalopathy disorder

778060000COL4A1-related familial vascular leucoencephalopathy disorder

726704006Cataract, congenital heart disease, neural tube defect syndrome disorder

1197429000Cathepsin A-related arteriopathy, strokes, leucoencephalopathy disorder

43152001Central core disease disorder

1237475006Cerebellar-facial-dental syndrome disorder

715990006Cerebellum agenesis with hydrocephaly disorder

711403001Cerebral folate transport deficiency disorder

1216942009Cerebral ventriculomegaly, cystic kidney disease disorder

720855003Cerebrooculonasal syndrome disorder

773668008Childhood encephalopathy due to thiamine pyrophosphokinase deficiency disorder

787172004Childhood-onset autosomal recessive myopathy with external ophthalmoplegia disorder

1156471001Choroid plexus carcinoma disorder

773610007Chudley McCullough syndrome disorder

785299009Cobblestone lissencephaly without muscular or ocular involvement disorder

21086008Cockayne syndrome disorder

732264002Coenzyme A synthase protein associated neurodegeneration disorder

718182008Combined pituitary hormone deficiency genetic form disorder

702433001Congenital cataracts, facial dysmorphism and neuropathy disorder

715436007Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration disorder

722389002Congenital hereditary facial paralysis with variable hearing loss syndrome disorder

1197059004Congenital ichthyosis, microcephalus, tetraplegia syndrome disorder

1231283007Congenital isolated adrenocorticotropic hormone deficiency disorder

1172594000Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome disorder

700150001Congenital leptin deficiency disorder

773306002Congenital lethal myopathy Compton North type disorder

718610008Congenital pontocerebellar hypoplasia type 1 disorder

782720005Congenital pontocerebellar hypoplasia type 10 disorder

1300188000Congenital pontocerebellar hypoplasia type 11 disorder

1300190004Congenital pontocerebellar hypoplasia type 12 disorder

1300191000Congenital pontocerebellar hypoplasia type 13 disorder

1300192007Congenital pontocerebellar hypoplasia type 14 disorder

715463008Congenital pontocerebellar hypoplasia type 2 disorder

718609003Congenital pontocerebellar hypoplasia type 3 disorder

718608006Congenital pontocerebellar hypoplasia type 4 disorder

718607001Congenital pontocerebellar hypoplasia type 5 disorder

718606005Congenital pontocerebellar hypoplasia type 6 disorder

718605009Congenital pontocerebellar hypoplasia type 7 disorder

718611007Congenital pontocerebellar hypoplasia type 8 disorder

775907000Congenital pontocerebellar hypoplasia type 9 disorder

732251003Cortical blindness, intellectual disability, polydactyly syndrome disorder

784344009Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation disorder

783179009Cranio-cervical dystonia with laryngeal and upper limb involvement disorder

720813007Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome disorder

722381004Crome syndrome disorder

732261005Cyprus facial neuromusculoskeletal syndrome disorder

720825005Cystic leucoencephalopathy without megalencephaly disorder

719021005DK phocomelia syndrome disorder

733094005Dandy-Walker malformation with postaxial polydactyly syndrome disorder

763688008Deafness, encephaloneuropathy, obesity, valvulopathy syndrome disorder

773664005Deficiency in anterior pituitary function, variable immunodeficiency syndrome disorder

717185008Deficiency of leukotriene C4 synthase disorder

1380254000Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome disorder

721092005Developmental malformation, deafness, dystonia syndrome disorder

766871009Diencephalic mesencephalic junction dysplasia disorder

73663008Disorder of central nervous system due to xeroderma pigmentosum disorder

722763000Dopamine transporter deficiency syndrome disorder

1230014007Duane retraction syndrome with congenital deafness disorder

722435003Dystonia 16 disorder

1281844004Dystonia 28 disorder

782718007Dystonia aphonia syndrome disorder

1237511005EMILIN-1-related connective tissue disease disorder

733082001Early-onset Lafora body disease disorder

773548008Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome disorder

1187042007Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome disorder

734017008Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome disorder

715980003Encephalopathy due to sulphite oxidase deficiency disorder

723309006Endocrine-cerebro-osteodysplasia syndrome disorder

254132000Endosteal hyperostoses with cerebellar hypoplasia disorder

784345005Epilepsy of infancy with migrating focal seizures disorder

733032006Epilepsy telangiectasia syndrome disorder

230389006Epilepsy with reading-induced seizures disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

726702005Epileptic encephalopathy with global cerebral demyelination disorder

778029000FASTKD2-related infantile mitochondrial encephalomyopathy disorder

774070008FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome disorder

702450004FOXG1 syndrome disorder

733417008Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome disorder

723359002Familial acute necrotising encephalopathy disorder

782917007Familial adrenal hypoplasia with absent pituitary luteinising hormone disorder

717225001Familial adult myoclonic epilepsy disorder

784348007Familial congenital mirror movements disorder

782679002Familial congenital palsy of trochlear nerve disorder

763770005Familial cortical myoclonus disorder

763352005Familial dyskinesia and facial myokymia disorder

702421006Familial encephalopathy with neuroserpin inclusion bodies disorder

784377008Familial epilepsy with auditory features disorder

782756008Familial episodic pain syndrome disorder

764522009Familial focal epilepsy with variable foci disorder

95656000Familial hemiplegic migraine disorder

763715007Familial hyperprolactinaemia disorder

773645004Familial infantile gigantism disorder

784342008Familial infantile myoclonic epilepsy disorder

702375004Familial isolated pituitary adenoma disorder

770405003Familial mesial temporal lobe epilepsy disorder

765202001Familial multiple benign meningioma disorder

1162864000Familial porencephaly disorder

698021005Familial sleep-related hypermotor epilepsy disorder

702419001Fatty acid hydroxylase associated neurodegeneration disorder

765089003Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome disorder

782754006Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome disorder

718848000Fried syndrome disorder

1332358007Full schwannomatosis disorder

770431001GRIN2A developmental and epileptic encephalopathy disorder

721297008Galloway Mowat syndrome disorder

716198008Game Friedman Paradice syndrome disorder

715629001Generalised epilepsy and paroxysmal dyskinesia syndrome disorder

699688008Genetic epilepsy with febrile seizures plus disorder

230669004Genetically determined myasthenia disorder

128207002Giant axonal neuropathy disorder

1172630000Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome disorder

445252005Glucose transporter protein type 1 deficiency syndrome disorder

765434008HIVEP2-related intellectual disability disorder

1186724002HTRA1-related autosomal dominant cerebral small vessel disease disorder

764962002Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 disorder

763597000Hereditary ataxia disorder

717003001Hereditary cavernous haemangioma of brain disorder

724357007Hereditary cerebral haemorrhage with amyloidosis disorder

733469003Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome disorder

1231178006Hereditary continuous muscle fibre activity disorder

106018006Hereditary degenerative disease of central nervous system disorder

702427005Hereditary diffuse leucoencephalopathy with spheroids disorder

609559001Hereditary essential tremor disorder

718103001Hereditary geniospasm disorder

1186807002Hereditary growth hormone deficiency disorder

724349009Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome disorder

27148008Hereditary motor end-plate disease disorder

49793008Hereditary motor neuron disease disorder

403775003Hereditary neurocutaneous angiomata disorder

43532007Hereditary oculoleptomeningeal amyloid angiopathy disorder

65017003Hereditary peripheral neuropathy disorder

702381007Horizontal gaze palsy with progressive scoliosis disorder

770939009Huntington disease-like 3 disorder

721231007Hydrocephalus with obesity and hypogonadism syndrome disorder

721229003Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome disorder

732926009Hydrocephalus, tall stature, joint laxity syndrome disorder

785726009Hyperekplexia epilepsy syndrome disorder

768553002Hypermanganesemia with dystonia disorder

763721006Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase disorder

1177177000Hyperphenylalanineaemia due to DNAJC12 deficiency disorder

733113002Hypogonadotropic hypogonadism retinitis pigmentosa syndrome disorder

721842008Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

711151004Hypomagnesaemia with secondary hypocalcaemia disorder

702379005Hypomyelination and congenital cataract disorder

766931003Hypomyelination neuropathy arthrogryposis syndrome disorder

1187126002ITM2B-related amyloidosis disorder

771223000Infantile epileptic dyskinetic encephalopathy disorder

1217371005Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome disorder

724226009Infantile osteopetrosis with neuroaxonal dysplasia syndrome disorder

1172603005Infantile-onset generalised dyskinesia with orofacial involvement disorder

773421009Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression disorder

722997000Inherited autonomic nervous system disorder disorder

782887003Inherited congenital spastic tetraplegia disorder

128190004Inherited metabolic disorder of nervous system disorder

312942003Inherited optic neuropathy disorder

1217382002Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome disorder

1187210007Intellectual disability, epilepsy, extrapyramidal syndrome disorder

722455002Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

763350002Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome disorder

758664007Isolated follicle stimulating hormone deficiency disorder

733091002Isolated hereditary congenital facial paralysis disorder

722006004Isotretinoin-like syndrome disorder

716997004Joubert syndrome disorder

718555006Juvenile amyotrophic lateral sclerosis disorder

778001003KCNQ2 developmental and epileptic encephalopathy disorder

722027009Kallman syndrome with heart disease disorder

723992000Kufor Rakeb syndrome disorder

716996008L1 syndrome disorder

724178000Laryngeal abductor paralysis with intellectual disability syndrome disorder

715565004Lethal arthrogryposis with anterior horn cell disease disorder

1229876001Lethal brain and heart developmental defects syndrome disorder

715419004Lethal congenital contracture syndrome type 2 disorder

763346009Lethal congenital contracture syndrome type 5 disorder

1237470001Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome disorder

1237342004Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome disorder

1197587003Lethal neonatal spasticity, epileptic encephalopathy syndrome disorder

773672007Lethal occipital encephalocele, skeletal dysplasia syndrome disorder

1362022003Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome disorder

735421004Leucoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome disorder

771184001Leucoencephalopathy, palmoplantar keratoderma syndrome disorder

763366000Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome disorder

718759003Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation disorder

717977003Lissencephaly syndrome Norman Roberts type disorder

715780008Lissencephaly type 1 due to doublecortin gene mutation disorder

718719001Lissencephaly type 3 familial fetal akinesia sequence syndrome disorder

718720007Lissencephaly type 3 metacarpal bone dysplasia syndrome disorder

79385002Lowe syndrome disorder

1169358003MARCH syndrome disorder

1187304005Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

717054001Maternally inherited mitochondrial dystonia disorder

724172004McLeod neuroacanthocytosis syndrome disorder

703536004Megalencephalic leucoencephalopathy with subcortical cysts disorder

700063005Megalencephaly capillary malformation disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

717968005Melanoma and neural system tumour syndrome disorder

59178007Menkes kinky-hair syndrome disorder

1187195007Microcephalic cortical malformations, short stature due to RTTN deficiency disorder

724141003Microcephalic primordial dwarfism due to ZNF335 deficiency disorder

764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder

1254650002Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome disorder

773305003Microcephaly, polymicrogyria, corpus callosum agenesis syndrome disorder

770721009Microcephaly, thin corpus callosum, intellectual disability syndrome disorder

723405001Microlissencephaly micromelia syndrome disorder

1300194008Mitchell syndrome disorder

709415008Mitochondrial membrane protein associated neurodegeneration disorder

718214007Mitochondrial neurogastrointestinal encephalomyopathy syndrome disorder

766987006Moebius syndrome disorder

716169009Morse Rawnsley Sargent syndrome disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

718551002Moyamoya disease with early onset achalasia disorder

205819008Multiple pterygium syndrome disorder

111505001Muscle-eye-brain disease, congenital muscular dystrophy disorder

230426003Myoclonic epilepsy with ragged red fibres disorder

763895001Myosclerosis disorder

1237462006NDE1-related microhydranencephaly disorder

773737004NPHP3-related Meckel-like syndrome disorder

1222710008Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome disorder

724091002Neuroectodermal melanolysosomal disease disorder

699299001Neuroferritinopathy disorder

92824003Neurofibromatosis type 1 disorder

771308008Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome disorder

783549006Obesity due to CEP19 deficiency disorder

783719006Obesity due to SIM1 deficiency disorder

785722006Obesity due to leptin receptor gene deficiency disorder

782879004Occipital pachygyria and polymicrogyria disorder

1255268002Oculocerebrodental syndrome disorder

724576005P5PD developmental and epileptic encephalopathy disorder

716706009PCDH19 clustering epilepsy disorder

1228871002PCNA-related progressive neurodegenerative photosensitivity syndrome disorder

702356009PPM-X syndrome disorder

1222657001PRUNE1-related neurological syndrome disorder

1237421000PYCR2-related microcephaly, progressive leucoencephalopathy disorder

763861000Pachygyria, intellectual disability, epilepsy syndrome disorder

783012006Parkinsonian pyramidal syndrome disorder

715564000Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity disorder

773497001Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome disorder

816068000Periventricular nodular heterotopia disorder

724067006Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome disorder

719139003Pettigrew syndrome disorder

54411001Peutz-Jeghers syndrome disorder

237612000Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction disorder

702344008Pitt-Hopkins syndrome disorder

702347001Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy disorder

1260449002Polyendocrine polyneuropathy syndrome disorder

1167371007Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome disorder

1208935007Polymicrogyria due to TUBB2B mutation disorder

723452007Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome disorder

1173997008Pontine autosomal dominant microangiopathy with leucoencephalopathy disorder

773627004Porencephaly, microcephaly, bilateral congenital cataract syndrome disorder

1269233006Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome disorder

1172689007Prenatal-onset spinal muscular atrophy with congenital bone fractures disorder

778027003Primary CD59 deficiency disorder

1220573009Primary dystonia DYT27 type disorder

789063000Primary hyperaldosteronism, seizures, neurological abnormalities syndrome disorder

782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder

719267003Progressive cavitating leucoencephalopathy disorder

764733009Progressive external ophthalmoplegia, myopathy, emaciation syndrome disorder

1172900005Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome disorder

783055005Progressive myoclonic epilepsy type 5 disorder

783062001Progressive myoclonic epilepsy type 6 disorder

1208939001Progressive myoclonic epilepsy type 7 disorder

783139000Progressive myoclonic epilepsy type 8 disorder

1228857005Progressive myoclonic epilepsy type 9 disorder

763349002Progressive myoclonic epilepsy with dystonia disorder

702326000Progressive myoclonus epilepsy with ataxia disorder

771305006Progressive polyneuropathy with bilateral striatal necrosis disorder

23150001Proteus syndrome disorder

770722002Proximal myopathy with extrapyramidal signs disorder

772225005RAB18 deficiency disorder

1172624000RERE-related neurodevelopmental syndrome disorder

723999009RHYNS syndrome disorder

702323008Rapid onset dystonia parkinsonism disorder

1371052007Recurrent HSV-2 (herpes simplex virus 2) meningitis due to autosomal dominant ATG4A deficiency disorder

763534009Reflex epilepsy with hot water-induced seizures disorder

703542000Retinal detachment and occipital encephalocoele disorder

783787000Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations disorder

68618008Rett syndrome disorder

1231737000Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome disorder

765093009Rolandic epilepsy, speech dyspraxia syndrome disorder

2355008Rud's syndrome disorder

1222656005SYNGAP1-related developmental and epileptic encephalopathy disorder

774150004Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome disorder

29145002Schwartz-Jampel syndrome disorder

1237571004Self-limited familial infantile epilepsy disorder

230410004Self-limited familial neonatal epilepsy disorder

1231282002Self-limited familial neonatal-infantile epilepsy disorder

716243005Sellars Beighton syndrome disorder

783556000Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency disorder

1208727002Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome disorder

723676007Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome disorder

770751003Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome disorder

771303004Severe neonatal onset encephalopathy with microcephaly disorder

773555005Severe neurodegenerative syndrome with lipodystrophy disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

721072003Short stature, pituitary and cerebellar defect and small sella turcica syndrome disorder

782824007Sodium channelopathy-related small fibre neuropathy disorder

75968004Sotos' syndrome disorder

722209002Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome disorder

723621000Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome disorder

732927000Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome disorder

389271000Spondyloenchondromatosis with basal ganglia calcification disorder

1172628002TBCK-related intellectual disability syndrome disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

718212006TMEM70 related mitochondrial encephalo-cardio-myopathy disorder

719947004Temtamy syndrome disorder

782951006Thoracic dysplasia and hydrocephalus syndrome disorder

733096007Thyrocerebrorenal syndrome disorder

360353005Thyrotoxicosis due to pituitary thyroid hormone resistance disorder

1285322008Triopia disorder

7199000Tuberous sclerosis syndrome disorder

1003444000Type 3 lissencephaly disorder

719043002VACTERL syndrome with hydrocephalus disorder

1366188001Vascular Ehlers-Danlos, polymicrogyria syndrome disorder

719824001Vici syndrome disorder

46659004Von Hippel-Lindau syndrome disorder

111504002Walker-Warburg congenital muscular dystrophy disorder

816067005Woodhouse Sakati syndrome disorder

770604006X-linked cerebral, cerebellar, coloboma syndrome disorder

1156840002X-linked distal hereditary motor neuropathy disorder

698279003X-linked dystonia parkinsonism disorder

717223008X-linked epilepsy with learning disability and behaviour disorder syndrome disorder

719827008X-linked immunoneurologic disorder disorder

719826004X-linked intellectual disability with acromegaly and hyperactivity syndrome disorder

719136005X-linked intellectual disability with cerebellar hypoplasia syndrome disorder

719156006X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome disorder

719810000X-linked intellectual disability with seizure and psoriasis syndrome disorder

1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder

1237420004X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome disorder

732246009X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency disorder

717632002X-linked lissencephaly with abnormal genitalia syndrome disorder

718847005X-linked neurodegenerative syndrome Hamel type disorder

237683004X-linked panhypopituitarism disorder

770757004X-linked parkinsonism with spasticity syndrome disorder

448227009X-linked periventricular heterotopia disorder

725163002X-linked spasticity, intellectual disability, epilepsy syndrome disorder

1162839003XK aprosencephaly syndrome disorder

773307006Zechi Ceide syndrome disorder

Hereditary disorder of nervous system

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Children (397)