| children | - 2-hydroxyglutaric aciduria 698870008
- 2-methyl-3-hydroxybutyric aciduria 791000124107
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome 783091003
- Aase Smith type 1 syndrome 718576001
- Absent tibia, polydactyly, arachnoid cyst syndrome 733068001
- Acrocallosal syndrome 715951007
- Action myoclonus renal failure syndrome 764453009
- Adult-onset cervical dystonia DYT23 type 783242003
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 725464001
- Adult-onset dystonia parkinsonism 720466001
- AGel amyloidosis 783160006
- Agenesis of corpus callosum and abnormal genitalia syndrome 763797003
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Aicardi's syndrome 80651009
- Albinism with deafness syndrome 722285005
- Alopecia, epilepsy, intellectual disability syndrome Moynahan type 788417006
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Amyotonia congenita 63135006
- Amyotrophic lateral sclerosis type 1 1201863001
- Amyotrophic lateral sclerosis type 10 1208412003
- Amyotrophic lateral sclerosis type 3 1201950008
- Amyotrophic lateral sclerosis type 8 1204350002
- Amyotrophic lateral sclerosis type 9 1204351003
- Ataxia with vitamin E deficiency 702442008
- Ataxia-telangiectasia syndrome 68504005
- Athabaskan brainstem dysgenesis syndrome 720518006
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome 720519003
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 771448004
- Autosomal dominant distal hereditary motor neuropathy 1156837002
- Autosomal dominant dopa responsive dystonia 715768000
- Autosomal dominant epilepsy with auditory features 784377008
- Autosomal dominant focal dystonia DYT25 type 719516000
- Autosomal dominant idiopathic familial dystonia 230319002
- Autosomal dominant progressive external ophthalmoplegia 827115000
- Autosomal recessive axonal neuropathy with neuromyotonia 711406009
- Autosomal recessive distal hereditary motor neuropathy 1156850001
- Autosomal recessive frontotemporal pachygyria 773394007
- Autosomal recessive idiopathic familial dystonia 230320008
- Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007
- Autosomal recessive progressive external ophthalmoplegia 827117008
- Beckwith-Wiedemann syndrome 81780002
- Bedouin spastic ataxia syndrome 715465001
- Beemer Ertbruggen syndrome 717859007
- Benign adult familial myoclonic epilepsy 717225001
- Benign familial infantile epilepsy 1237571004
- Benign familial mesial temporal lobe epilepsy 770405003
- Benign familial neonatal-infantile seizures 1231282002
- Benign hereditary chorea 230306001
- Benign neonatal familial convulsions 230410004
- Beta-propeller protein-associated neurodegeneration 732959007
- Bilateral frontoparietal polymicrogyria 890286007
- Biotin-thiamine-responsive basal ganglia disease 703522009
- Borjeson-Forssman-Lehmann syndrome 21634003
- Brain dopamine-serotonin vesicular transport disease 717942003
- Brown-Vialetto-Van Laere syndrome 699866005
- Cataract, congenital heart disease, neural tube defect syndrome 726704006
- Cathepsin A-related arteriopathy, strokes, leukoencephalopathy 1197429000
- CEDNIK syndrome 722385008
- Cerebellar-facial-dental syndrome 1237475006
- Cerebellum agenesis with hydrocephaly 715990006
- Cerebral folate transport deficiency 711403001
- Cerebral ventriculomegaly, cystic kidney disease 1216942009
- Cerebrooculonasal syndrome 720855003
- Cerebroretinal vasculopathy 720854004 removed: 2019-07-31
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 773668008
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004
- Choroid plexus carcinoma 1156471001
- Choroideremia hypopituitarism 715417002 removed: 2020-01-31
- Chudley McCullough syndrome 773610007
- CLCN4-related X-linked intellectual disability syndrome 1172691004
- CNTNAP2-related developmental and epileptic encephalopathy 1230376005
- Cobblestone lissencephaly without muscular or ocular involvement 785299009
- Cockayne syndrome 21086008
- Coenzyme A synthase protein associated neurodegeneration 732264002
- COL4A1-related familial vascular leukoencephalopathy 778060000
- Combined pituitary hormone deficiency genetic form 718182008
- Congenital cataracts, facial dysmorphism and neuropathy 702433001
- Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration 715436007
- Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
- Congenital ichthyosis, microcephalus, tetraplegia syndrome 1197059004
- Congenital isolated adrenocorticotropic hormone deficiency 1231283007
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital leptin deficiency 700150001
- Congenital pontocerebellar hypoplasia type 1 718610008
- Congenital pontocerebellar hypoplasia type 10 782720005
- Congenital pontocerebellar hypoplasia type 2 715463008
- Congenital pontocerebellar hypoplasia type 3 718609003
- Congenital pontocerebellar hypoplasia type 4 718608006
- Congenital pontocerebellar hypoplasia type 5 718607001
- Congenital pontocerebellar hypoplasia type 6 718606005
- Congenital pontocerebellar hypoplasia type 7 718605009
- Congenital pontocerebellar hypoplasia type 8 718611007
- Congenital pontocerebellar hypoplasia type 9 775907000
- Cortical blindness, intellectual disability, polydactyly syndrome 732251003
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 784344009
- Cranio-cervical dystonia with laryngeal and upper limb involvement 783179009
- Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome 720813007
- Crome syndrome 722381004
- Cyprus facial neuromusculoskeletal syndrome 732261005
- Cystic leukoencephalopathy without megalencephaly 720825005
- Dandy-Walker malformation with postaxial polydactyly syndrome 733094005
- Deafness, encephaloneuropathy, obesity, valvulopathy syndrome 763688008
- Deficiency in anterior pituitary function, variable immunodeficiency syndrome 773664005
- Deficiency of leukotriene C4 synthase 717185008
- Dentatorubral-pallidoluysian atrophy 702422004 removed: 2015-07-31
- Developmental malformation, deafness, dystonia syndrome 721092005
- Diencephalic mesencephalic junction dysplasia 766871009
- Disorder of central nervous system due to xeroderma pigmentosum 73663008
- DK phocomelia syndrome 719021005
- Dopamine transporter deficiency syndrome 722763000
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Duane retraction syndrome with congenital deafness 1230014007
- Dystonia 16 722435003
- Dystonia 28 1281844004
- Dystonia aphonia syndrome 782718007
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome 773548008
- Early-onset Lafora body disease 733082001
- Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- EMILIN-1-related connective tissue disease 1237511005
- Encephalopathy due to sulfite oxidase deficiency 715980003
- Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome 763280005
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Endosteal hyperostoses with cerebellar hypoplasia 254132000
- Epilepsy telangiectasia syndrome 733032006
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epileptic encephalopathy with global cerebral demyelination 726702005
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
- Familial acute necrotizing encephalopathy 723359002
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007
- Familial congenital mirror movements 784348007
- Familial congenital palsy of trochlear nerve 782679002
- Familial cortical myoclonus 763770005
- Familial dyskinesia and facial myokymia 763352005
- Familial encephalopathy with neuroserpin inclusion bodies 702421006
- Familial episodic pain syndrome 782756008
- Familial focal epilepsy with variable foci 764522009
- Familial hemiplegic migraine 95656000
- Familial hyperprolactinemia 763715007
- Familial infantile gigantism 773645004
- Familial infantile myoclonic epilepsy 784342008
- Familial isolated pituitary adenoma 702375004
- Familial mesial temporal lobe epilepsy with febrile seizures 784372002
- Familial multiple benign meningioma 765202001
- Familial porencephaly 1162864000
- FASTKD2-related infantile mitochondrial encephalomyopathy 778029000
- Fatty acid hydroxylase associated neurodegeneration 702419001
- FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008
- Female restricted epilepsy with intellectual disability syndrome 716706009
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome 765089003
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome 782754006
- FOXG1 syndrome 702450004
- Fried syndrome 718848000
- Frontotemporal dementia with parkinsonism-17 702429008
- Galloway Mowat syndrome 721297008
- Game Friedman Paradice syndrome 716198008
- Generalized epilepsy and paroxysmal dyskinesia syndrome 715629001
- Genetically determined myasthenia 230669004
- Giant axonal neuropathy 128207002
- Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome 1172630000
- Glucose transporter protein type 1 deficiency syndrome 445252005
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 764962002
- Hereditary ataxia 763597000
- Hereditary cavernous hemangioma of brain 717003001
- Hereditary cerebral hemorrhage with amyloidosis 724357007
- Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome 733469003
- Hereditary continuous muscle fiber activity 1231178006
- Hereditary degenerative disease of central nervous system 106018006
- Hereditary diffuse leukoencephalopathy with spheroids 702427005
- Hereditary essential tremor 609559001
- Hereditary geniospasm 718103001
- Hereditary growth hormone deficiency 1186807002
- Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009
- Hereditary motor end-plate disease 27148008
- Hereditary motor neuron disease 49793008
- Hereditary nephrogenic diabetes insipidus 61165007
- Hereditary neuraxial edema 22126005
- Hereditary neurocutaneous angiomata 403775003
- Hereditary peripheral neuropathy 65017003
- Horizontal gaze palsy with progressive scoliosis 702381007
- Hot water reflex epilepsy 763534009
- HTRA1-related autosomal dominant cerebral small vessel disease 1186724002
- Huntington disease-like 3 770939009
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome 721229003
- Hydrocephalus, tall stature, joint laxity syndrome 732926009
- Hyperekplexia epilepsy syndrome 785726009
- Hypermanganesemia with dystonia 768553002
- Hypermethioninemia encephalopathy due to deficiency of adenosine kinase 763721006
- Hyperphenylalaninemia due to DNAJC12 deficiency 1177177000
- Hypogonadotropic hypogonadism retinitis pigmentosa syndrome 733113002
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypomagnesemia with secondary hypocalcemia 711151004
- Hypomyelination and congenital cataract 702379005
- Hypomyelination neuropathy arthrogryposis syndrome 766931003
- Infantile epileptic dyskinetic encephalopathy 771223000
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome 1217371005
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009
- Infantile-onset generalized dyskinesia with orofacial involvement 1172603005
- Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 773421009
- Inherited autonomic nervous system disorder 722997000
- Inherited congenital spastic tetraplegia 782887003
- Inherited metabolic disorder of nervous system 128190004
- Inherited optic neuropathy 312942003
- Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1217382002
- Intellectual disability, epilepsy, extrapyramidal syndrome 1187210007
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome 763350002
- Isolated follicle stimulating hormone deficiency 758664007
- Isolated hereditary congenital facial paralysis 733091002
- Isotretinoin-like syndrome 722006004
- Joubert syndrome 716997004
- Juvenile amyotrophic lateral sclerosis 718555006
- Kallman syndrome with heart disease 722027009
- KCNQ2-related epileptic encephalopathy 778001003
- Kohlschutter's syndrome 109478007
- Kufor Rakeb syndrome 723992000
- L1 syndrome 716996008
- Lethal arthrogryposis with anterior horn cell disease 715565004
- Lethal brain and heart developmental defects syndrome 1229876001
- Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome 1237470001
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 1237342004
- Lethal neonatal spasticity, epileptic encephalopathy syndrome 1197587003
- Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome 735421004
- Leukoencephalopathy, palmoplantar keratoderma syndrome 771184001
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome 763366000
- Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation 718759003
- Lissencephaly syndrome Norman Roberts type 717977003
- Lissencephaly type 1 due to doublecortin gene mutation 715780008
- Lissencephaly type 3 familial fetal akinesia sequence syndrome 718719001
- Lissencephaly type 3 metacarpal bone dysplasia syndrome 718720007
- Lowe syndrome 79385002
- Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Malignant migrating partial seizures of infancy 784345005
- MARCH syndrome 1169358003
- Maternally inherited mitochondrial dystonia 717054001
- McLeod neuroacanthocytosis syndrome 724172004
- Megalencephalic leukoencephalopathy with subcortical cysts 703536004
- Megalencephaly capillary malformation 700063005
- Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
- Melanoma and neural system tumor syndrome 717968005
- Menkes kinky-hair syndrome 59178007
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephalic primordial dwarfism due to ZNF335 deficiency 724141003
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome 773305003
- Microcephaly, thin corpus callosum, intellectual disability syndrome 770721009
- Microlissencephaly micromelia syndrome 723405001
- Mitochondrial membrane protein associated neurodegeneration 709415008
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome 718214007
- Moebius syndrome 766987006
- Morse Rawnsley Sargent syndrome 716169009
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Moyamoya disease with early onset achalasia 718551002
- Muscle-eye-brain disease, congenital muscular dystrophy 111505001
- Myoclonic epilepsy with ragged red fibers 230426003
- Myosclerosis 763895001
- NDE1-related microhydranencephaly 1237462006
- Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome 1186718008
- Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 1222710008
- Neuroectodermal melanolysosomal disease 724091002
- Neuroferritinopathy 699299001
- Neurofibromatosis type 1 92824003
- Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome 771308008
- NPHP3-related Meckel-like syndrome 773737004
- Obesity due to leptin receptor gene deficiency 785722006
- Occipital pachygyria and polymicrogyria 782879004
- Oculocerebrodental syndrome 1255268002
- Pachygyria, intellectual disability, epilepsy syndrome 763861000
- Parkinsonian pyramidal syndrome 783012006
- Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity 715564000
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome 773497001
- PCNA-related progressive neurodegenerative photosensitivity syndrome 1228871002
- Periventricular nodular heterotopia 816068000
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
- Pettigrew syndrome 719139003
- Peutz-Jeghers syndrome 54411001
- Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction 237612000
- Pitt-Hopkins syndrome 702344008
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 702347001
- Polyendocrine polyneuropathy syndrome 1260449002
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome 1167371007
- Polymicrogyria due to TUBB2B mutation 1208935007
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome 723452007
- Pontine autosomal dominant microangiopathy with leukoencephalopathy 1173997008
- Porencephaly, microcephaly, bilateral congenital cataract syndrome 773627004
- Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome 1269233006
- PPM-X syndrome 702356009
- Prenatal-onset spinal muscular atrophy with congenital bone fractures 1172689007
- Primary CD59 deficiency 778027003
- Primary dystonia DYT27 type 1220573009
- Primary hyperaldosteronism, seizures, neurological abnormalities syndrome 789063000
- Primary inherited reading epilepsy 230389006
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome 782825008
- Progressive cavitating leukoencephalopathy 719267003
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome 1172900005
- Progressive myoclonic epilepsy type 5 783055005
- Progressive myoclonic epilepsy type 6 783062001
- Progressive myoclonic epilepsy type 7 1208939001
- Progressive myoclonic epilepsy type 8 783139000
- Progressive myoclonic epilepsy type 9 1228857005
- Progressive myoclonic epilepsy with dystonia 763349002
- Progressive myoclonus epilepsy with ataxia 702326000
- Progressive polyneuropathy with bilateral striatal necrosis 771305006
- Proteus syndrome 23150001
- Proximal myopathy with extrapyramidal signs 770722002
- PRUNE1-related neurological syndrome 1222657001
- Ptosis and vocal cord paralysis syndrome 771263004
- PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000
- Pyridoxal 5-phosphate dependent epilepsy 724576005
- RAB18 deficiency 772225005
- Rapid onset dystonia parkinsonism 702323008
- RERE-related neurodevelopmental syndrome 1172624000
- Retinal detachment and occipital encephalocele 703542000
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 783787000
- Rett syndrome 68618008
- RHYNS syndrome 723999009
- Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome 1231737000
- Rolandic epilepsy, speech dyspraxia syndrome 765093009
- Rud's syndrome 2355008
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome 774150004
- Schwartz-Jampel syndrome 29145002
- Sellars Beighton syndrome 716243005
- Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe neonatal onset encephalopathy with microcephaly 771303004
- Severe neurodegenerative syndrome with lipodystrophy 773555005
- Severe oculo-renal-cerebellar syndrome 1208341008
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome 721072003
- Sodium channelopathy-related small fiber neuropathy 782824007
- Sotos' syndrome 75968004
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome 722209002
- Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome 723621000
- Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000
- Spondyloenchondromatosis with basal ganglia calcification 389271000
- SYNGAP1-related developmental and epileptic encephalopathy 1222656005
- TBCK-related intellectual disability syndrome 1172628002
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- Temtamy syndrome 719947004
- Thoracic dysplasia and hydrocephalus syndrome 782951006
- Thyrocerebrorenal syndrome 733096007
- TMEM70 related mitochondrial encephalo-cardio-myopathy 718212006
- Triopia 1285322008
- Tuberous sclerosis syndrome 7199000
- Type 3 lissencephaly 1003444000
- VACTERL syndrome with hydrocephalus 719043002
- Vici syndrome 719824001
- Von Hippel-Lindau syndrome 46659004
- Walker-Warburg congenital muscular dystrophy 111504002
- Woodhouse Sakati syndrome 816067005
- X-linked cerebral, cerebellar, coloboma syndrome 770604006
- X-linked distal hereditary motor neuropathy 1156840002
- X-linked dystonia parkinsonism 698279003
- X-linked epilepsy with learning disability and behavior disorder syndrome 717223008
- X-linked immunoneurologic disorder 719827008
- X-linked intellectual disability with acromegaly and hyperactivity syndrome 719826004
- X-linked intellectual disability with cerebellar hypoplasia syndrome 719136005
- X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome 719156006
- X-linked intellectual disability with seizure and psoriasis syndrome 719810000
- X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome 1237420004
- X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
- X-linked lissencephaly with abnormal genitalia syndrome 717632002
- X-linked neurodegenerative syndrome Hamel type 718847005
- X-linked panhypopituitarism 237683004
- X-linked parkinsonism with spasticity syndrome 770757004
- X-linked periventricular heterotopia 448227009
- X-linked spasticity, intellectual disability, epilepsy syndrome 725163002
- XK aprosencephaly syndrome 1162839003
- Zechi Ceide syndrome 773307006
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