{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-611314/","orphanet_url":"https://www.orpha.net/en/disease/detail/611314","names":{"fr":{"name":"Déficience intellectuelle syndromique rare sans anomalies congénitales multiples/syndrome dysmorphique"},"de":{"name":"Seltene syndromale Intelligenzminderung ohne multiple kongenitale Anomalien/Dysmorphien"},"es":{"name":"Discapacidad intelectual sindrómica rara sin anomalías congénitas múltiples/síndrome dismórfico"},"it":{"name":"Sindrome disabilitÃ intellettiva sindromica rara senza anomalie/dismorfismi congeniti multipli"},"nl":{"name":"Zeldzame syndromale intellectuele achterstand zonder multipele congenitale anomalieën/dysmorfie-syndroom"},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual sindromática rara sem anomalias congénitas múltiplas/dismorfia"},"pl":{"name":"Rzadki zespół syndomicznej niepełnosprawności intelektualnej bez licznych wad wrodzonych/zespołu dysmorficznego"},"cs":{"name":"Vzácná syndromická mentální retardace bez mnohočetných vrozených vad/dysmorfie"},"uk":{"name":"Рідкісна синдромальна інтелектуальна недостатність без множинних вроджених аномалій/дисморфічного синдрому"}},"xrefs":[{"source":"UMLS","code":"C5681520","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183763,"name":"Rare genetic syndromic intellectual disability","classifications":[156]},{"orpha":102369,"name":"Rare syndromic intellectual disability","classifications":[181]}],"children":[{"orpha":293948,"name":"1p21.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":699850,"name":"2p25.3 microduplication syndrome","type":"Malformation syndrome"},{"orpha":67046,"name":"3-methylglutaconic aciduria type 1","type":"Disease"},{"orpha":505208,"name":"3-methylglutaconic aciduria type 8","type":"Disease"},{"orpha":505216,"name":"3-methylglutaconic aciduria type 9","type":"Disease"},{"orpha":445038,"name":"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","type":"Disease"},{"orpha":531151,"name":"9q21.13 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":412069,"name":"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":250977,"name":"AICA-ribosiduria","type":"Disease"},{"orpha":79327,"name":"ALG1-CDG","type":"Disease"},{"orpha":280071,"name":"ALG11-CDG","type":"Disease"},{"orpha":79324,"name":"ALG12-CDG","type":"Disease"},{"orpha":324422,"name":"ALG13-CDG","type":"Disease"},{"orpha":79326,"name":"ALG2-CDG","type":"Disease"},{"orpha":79321,"name":"ALG3-CDG","type":"Disease"},{"orpha":79320,"name":"ALG6-CDG","type":"Disease"},{"orpha":79325,"name":"ALG8-CDG","type":"Disease"},{"orpha":79328,"name":"ALG9-CDG","type":"Disease"},{"orpha":157954,"name":"ANE syndrome","type":"Disease"},{"orpha":356996,"name":"ANK3-related intellectual disability-sleep disturbance syndrome","type":"Disease"},{"orpha":2500,"name":"Acrogeria","type":"Malformation syndrome"},{"orpha":674653,"name":"Actinomyopathy-associated syndromic thrombocytopenia","type":"Disease"},{"orpha":466794,"name":"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","type":"Disease"},{"orpha":46,"name":"Adenylosuccinate lyase deficiency","type":"Disease"},{"orpha":773,"name":"Adult Refsum disease","type":"Disease"},{"orpha":589830,"name":"Adult-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":284289,"name":"Adult-onset autosomal recessive cerebellar ataxia","type":"Disease"},{"orpha":50,"name":"Aicardi syndrome","type":"Disease"},{"orpha":51,"name":"Aicardi-Goutières syndrome","type":"Disease"},{"orpha":404454,"name":"Alacrimia-choreoathetosis-liver dysfunction syndrome","type":"Disease"},{"orpha":59,"name":"Allan-Herndon-Dudley syndrome","type":"Disease"},{"orpha":1008,"name":"Alopecia-epilepsy-pyorrhea-intellectual disability syndrome","type":"Disease"},{"orpha":2850,"name":"Alopecia-intellectual disability syndrome","type":"Disease"},{"orpha":726,"name":"Alpers-Huttenlocher syndrome","type":"Disease"},{"orpha":3137,"name":"Alpha-N-acetylgalactosaminidase deficiency","type":"Disease"},{"orpha":280333,"name":"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16","type":"Disease"},{"orpha":61,"name":"Alpha-mannosidosis","type":"Disease"},{"orpha":98791,"name":"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16","type":"Malformation syndrome"},{"orpha":64,"name":"Alström syndrome","type":"Disease"},{"orpha":1946,"name":"Amelocerebrohypohidrotic syndrome","type":"Malformation syndrome"},{"orpha":137754,"name":"Aminoacylase 1 deficiency","type":"Disease"},{"orpha":1065,"name":"Aniridia-cerebellar ataxia-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":611216,"name":"Aplastic anemia-intellectual disability-dwarfism syndrome","type":"Disease"},{"orpha":23,"name":"Argininosuccinic aciduria","type":"Disease"},{"orpha":93,"name":"Aspartylglucosaminuria","type":"Disease"},{"orpha":1188,"name":"Ataxia-deafness-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":370022,"name":"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome","type":"Disease"},{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease"},{"orpha":251347,"name":"Ataxia-telangiectasia-like disorder","type":"Disease"},{"orpha":3095,"name":"Atypical Rett syndrome","type":"Disease"},{"orpha":370943,"name":"Autism spectrum disorder-epilepsy-arthrogryposis syndrome","type":"Disease"},{"orpha":98808,"name":"Autosomal dominant dopa-responsive dystonia","type":"Disease"},{"orpha":100991,"name":"Autosomal dominant spastic paraplegia type 10","type":"Disease"},{"orpha":139485,"name":"Autosomal recessive ataxia due to ubiquinone deficiency","type":"Disease"},{"orpha":88644,"name":"Autosomal recessive ataxia, Beauce type","type":"Disease"},{"orpha":453521,"name":"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency","type":"Disease"},{"orpha":412057,"name":"Autosomal recessive cerebellar ataxia due to STUB1 deficiency","type":"Disease"},{"orpha":404481,"name":"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome","type":"Clinical group"},{"orpha":284271,"name":"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome","type":"Disease"},{"orpha":1170,"name":"Autosomal recessive cerebelloparenchymal disorder type 3","type":"Disease"},{"orpha":506353,"name":"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction","type":"Disease"},{"orpha":363432,"name":"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency","type":"Clinical subtype"},{"orpha":324262,"name":"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency","type":"Clinical subtype"},{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","type":"Disease"},{"orpha":101150,"name":"Autosomal recessive dopa-responsive dystonia","type":"Disease"},{"orpha":79644,"name":"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency","type":"Disease"},{"orpha":621,"name":"Autosomal recessive methemoglobinemia","type":"Disease"},{"orpha":93607,"name":"Autosomal recessive proximal renal tubular acidosis","type":"Clinical subtype"},{"orpha":314603,"name":"Autosomal recessive spastic ataxia with leukoencephalopathy","type":"Disease"},{"orpha":2822,"name":"Autosomal recessive spastic paraplegia type 11","type":"Disease"},{"orpha":101000,"name":"Autosomal recessive spastic paraplegia type 20","type":"Disease"},{"orpha":101006,"name":"Autosomal recessive spastic paraplegia type 26","type":"Disease"},{"orpha":320396,"name":"Autosomal recessive spastic paraplegia type 45","type":"Disease"},{"orpha":320391,"name":"Autosomal recessive spastic paraplegia type 46","type":"Disease"},{"orpha":319199,"name":"Autosomal recessive spastic paraplegia type 53","type":"Disease"},{"orpha":320380,"name":"Autosomal recessive spastic paraplegia type 54","type":"Disease"},{"orpha":320411,"name":"Autosomal recessive spastic paraplegia type 56","type":"Disease"},{"orpha":401810,"name":"Autosomal recessive spastic paraplegia type 64","type":"Disease"},{"orpha":459056,"name":"Autosomal recessive spastic paraplegia type 75","type":"Disease"},{"orpha":447760,"name":"Autosomal recessive spastic paraplegia type 9B","type":"Disease"},{"orpha":209951,"name":"Autosomal spastic paraplegia type 18","type":"Disease"},{"orpha":536467,"name":"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":134,"name":"Beta-ketothiolase deficiency","type":"Disease"},{"orpha":118,"name":"Beta-mannosidosis","type":"Disease"},{"orpha":329284,"name":"Beta-propeller protein-associated neurodegeneration","type":"Disease"},{"orpha":1980,"name":"Bilateral striopallidodentate calcinosis","type":"Disease"},{"orpha":166108,"name":"Birk-Barel syndrome","type":"Disease"},{"orpha":123,"name":"Björnstad syndrome","type":"Disease"},{"orpha":125,"name":"Bloom syndrome","type":"Disease"},{"orpha":352649,"name":"Brain dopamine-serotonin vesicular transport disease","type":"Disease"},{"orpha":209905,"name":"Brain-lung-thyroid syndrome","type":"Disease"},{"orpha":497623,"name":"C12ORF65-related combined oxidative phosphorylation defect","type":"Clinical group"},{"orpha":505652,"name":"CDKL5-deficiency disorder","type":"Disease"},{"orpha":66631,"name":"CEDNIK syndrome","type":"Disease"},{"orpha":1451,"name":"CINCA syndrome","type":"Disease"},{"orpha":251383,"name":"CK syndrome","type":"Malformation syndrome"},{"orpha":485350,"name":"CLCN4-related X-linked intellectual disability syndrome","type":"Disease"},{"orpha":610573,"name":"CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome","type":"Disease"},{"orpha":163681,"name":"CNTNAP2-related developmental and epileptic encephalopathy","type":"Disease"},{"orpha":397725,"name":"COASY protein-associated neurodegeneration","type":"Disease"},{"orpha":263501,"name":"COG4-CDG","type":"Disease"},{"orpha":263487,"name":"COG5-CDG","type":"Disease"},{"orpha":95428,"name":"COG8-CDG","type":"Disease"},{"orpha":159,"name":"Carnitine-acylcarnitine translocase deficiency","type":"Disease"},{"orpha":1375,"name":"Cataract-hypertrichosis-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":94122,"name":"Cerebellar ataxia, Cayman type","type":"Disease"},{"orpha":909,"name":"Cerebrotendinous xanthomatosis","type":"Disease"},{"orpha":90103,"name":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":589824,"name":"Childhood-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":500180,"name":"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder","type":"Disease"},{"orpha":77293,"name":"Chronic visceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":79239,"name":"Classic galactosemia","type":"Disease"},{"orpha":289504,"name":"Combined malonic and methylmalonic acidemia","type":"Disease"},{"orpha":444013,"name":"Combined oxidative phosphorylation defect type 23","type":"Disease"},{"orpha":477774,"name":"Combined oxidative phosphorylation defect type 27","type":"Disease"},{"orpha":565624,"name":"Combined oxidative phosphorylation defect type 39","type":"Disease"},{"orpha":71278,"name":"Congenital brain dysgenesis due to glutamine synthetase deficiency","type":"Disease"},{"orpha":300313,"name":"Congenital cataract-hearing loss-severe developmental delay syndrome","type":"Disease"},{"orpha":330054,"name":"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","type":"Disease"},{"orpha":512260,"name":"Congenital cerebellar ataxia due to RNU12 mutation","type":"Disease"},{"orpha":352333,"name":"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome","type":"Disease"},{"orpha":453510,"name":"Congenital insensitivity to pain with severe intellectual disability","type":"Disease"},{"orpha":370959,"name":"Congenital muscular dystrophy with cerebellar involvement","type":"Disease"},{"orpha":370968,"name":"Congenital muscular dystrophy with intellectual disability","type":"Disease"},{"orpha":329178,"name":"Congenital muscular dystrophy with intellectual disability and severe epilepsy","type":"Disease"},{"orpha":662184,"name":"Congenital muscular dystrophy-cataract-intellectual disability syndrome","type":"Disease"},{"orpha":486815,"name":"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","type":"Disease"},{"orpha":589821,"name":"Congenital-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":300536,"name":"DDOST-CDG","type":"Disease"},{"orpha":86309,"name":"DPAGT1-CDG","type":"Disease"},{"orpha":79322,"name":"DPM1-CDG","type":"Disease"},{"orpha":263494,"name":"DPM3-CDG","type":"Disease"},{"orpha":34587,"name":"Danon disease","type":"Disease"},{"orpha":660017,"name":"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome","type":"Disease"},{"orpha":652487,"name":"Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome","type":"Malformation syndrome"},{"orpha":717795,"name":"Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome","type":"Disease"},{"orpha":124,"name":"Diamond-Blackfan anemia","type":"Disease"},{"orpha":66634,"name":"Dilated cardiomyopathy with ataxia","type":"Disease"},{"orpha":293939,"name":"Distal Xq28 microduplication syndrome","type":"Malformation syndrome"},{"orpha":70594,"name":"Dopa-responsive dystonia due to sepiapterin reductase deficiency","type":"Disease"},{"orpha":33069,"name":"Dravet syndrome","type":"Disease"},{"orpha":98896,"name":"Duchenne muscular dystrophy","type":"Disease"},{"orpha":1766,"name":"Dysequilibrium syndrome","type":"Disease"},{"orpha":589618,"name":"Dystonia 28","type":"Disease"},{"orpha":521406,"name":"Dystonia-parkinsonism-hypermanganesemia syndrome","type":"Disease"},{"orpha":199343,"name":"EAST syndrome","type":"Disease"},{"orpha":695783,"name":"EDEM3-CDG","type":"Disease"},{"orpha":1934,"name":"Early infantile developmental and epileptic encephalopathy","type":"Clinical syndrome"},{"orpha":98890,"name":"Early-onset X-linked optic atrophy","type":"Disease"},{"orpha":488635,"name":"Early-onset epilepsy-intellectual disability-brain anomalies syndrome","type":"Disease"},{"orpha":289266,"name":"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation","type":"Disease"},{"orpha":99704,"name":"Early-onset obesity-hyperphagia-severe developmental delay syndrome","type":"Disease"},{"orpha":2379,"name":"Early-onset parkinsonism-intellectual disability syndrome","type":"Disease"},{"orpha":496756,"name":"Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome","type":"Disease"},{"orpha":3240,"name":"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome","type":"Disease"},{"orpha":664511,"name":"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency","type":"Clinical subtype"},{"orpha":261,"name":"Emery-Dreifuss muscular dystrophy","type":"Disease"},{"orpha":527276,"name":"Encephalopathy due to mitochondrial and peroxisomal fission defect","type":"Disease"},{"orpha":833,"name":"Encephalopathy due to sulfite oxidase deficiency","type":"Disease"},{"orpha":1942,"name":"Epilepsy with myoclonic-atonic seizures","type":"Disease"},{"orpha":51188,"name":"Ethylmalonic encephalopathy","type":"Disease"},{"orpha":561854,"name":"FOXG1 syndrome","type":"Disease"},{"orpha":100973,"name":"FRAXE intellectual disability","type":"Disease"},{"orpha":100974,"name":"FRAXF syndrome","type":"Disease"},{"orpha":88619,"name":"Familial acute necrotizing encephalopathy","type":"Disease"},{"orpha":238722,"name":"Familial congenital mirror movements","type":"Disease"},{"orpha":361,"name":"Familial glucocorticoid deficiency","type":"Disease"},{"orpha":95716,"name":"Familial thyroid dyshormonogenesis","type":"Disease"},{"orpha":333,"name":"Farber disease","type":"Disease"},{"orpha":1561,"name":"Fatal infantile cytochrome C oxidase deficiency","type":"Disease"},{"orpha":168566,"name":"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3","type":"Disease"},{"orpha":438178,"name":"Fatty acyl-CoA reductase 1 deficiency","type":"Disease"},{"orpha":834,"name":"Free sialic acid storage disease","type":"Disease"},{"orpha":349,"name":"Fucosidosis","type":"Disease"},{"orpha":354,"name":"GM1 gangliosidosis","type":"Disease"},{"orpha":370933,"name":"GM3 synthase deficiency","type":"Disease"},{"orpha":363623,"name":"GMPPB-related limb-girdle muscular dystrophy R19","type":"Disease"},{"orpha":592564,"name":"GNAO1-related developmental delay-seizures-movement disorder spectrum","type":"Disease"},{"orpha":542306,"name":"GNB5-related intellectual disability-cardiac arrhythmia syndrome","type":"Disease"},{"orpha":589547,"name":"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder","type":"Disease"},{"orpha":643,"name":"Giant axonal neuropathy","type":"Disease"},{"orpha":714399,"name":"Global developmental delay-dental enamel defects-ataxia syndrome","type":"Disease"},{"orpha":714385,"name":"Global developmental delay-high pain tolerance-intellectual disability syndrome","type":"Disease"},{"orpha":488613,"name":"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":32,"name":"Glutathione synthetase deficiency","type":"Disease"},{"orpha":407,"name":"Glycine encephalopathy","type":"Disease"},{"orpha":713,"name":"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency","type":"Disease"},{"orpha":381,"name":"Griscelli syndrome","type":"Disease"},{"orpha":73273,"name":"Growth delay due to insulin-like growth factor I resistance","type":"Disease"},{"orpha":73272,"name":"Growth delay due to insulin-like growth factor type 1 deficiency","type":"Disease"},{"orpha":541423,"name":"Growth delay-intellectual disability-hepatopathy syndrome","type":"Disease"},{"orpha":382,"name":"Guanidinoacetate methyltransferase deficiency","type":"Disease"},{"orpha":391417,"name":"HSD10 disease","type":"Disease"},{"orpha":643549,"name":"Hao-Fountain syndrome","type":"Disease"},{"orpha":2116,"name":"Hartnup disease","type":"Disease"},{"orpha":1867,"name":"Hereditary bullous dystrophy, macular type","type":"Disease"},{"orpha":168577,"name":"Hereditary cryohydrocytosis with reduced stomatin","type":"Disease"},{"orpha":90045,"name":"Hereditary folate malabsorption","type":"Disease"},{"orpha":3197,"name":"Hereditary hyperekplexia","type":"Disease"},{"orpha":30,"name":"Hereditary orotic aciduria","type":"Disease"},{"orpha":320385,"name":"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation","type":"Disease"},{"orpha":642,"name":"Hereditary sensory and autonomic neuropathy type 4","type":"Disease"},{"orpha":394,"name":"Homocystinuria due to cystathionine beta-synthase deficiency","type":"Disease"},{"orpha":3322,"name":"Hoyeraal-Hreidarsson syndrome","type":"Disease"},{"orpha":927,"name":"Hyperammonemia due to N-acetylglutamate synthase deficiency","type":"Disease"},{"orpha":415,"name":"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","type":"Disease"},{"orpha":419,"name":"Hyperprolinemia type 1","type":"Disease"},{"orpha":2435,"name":"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","type":"Disease"},{"orpha":363523,"name":"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome","type":"Disease"},{"orpha":599376,"name":"Hypomyelination of early myelinating structures","type":"Disease"},{"orpha":85163,"name":"Hypomyelination-congenital cataract syndrome","type":"Malformation syndrome"},{"orpha":88637,"name":"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome","type":"Clinical subtype"},{"orpha":206428,"name":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","type":"Clinical group"},{"orpha":2268,"name":"ICF syndrome","type":"Malformation syndrome"},{"orpha":352479,"name":"ISPD-related limb-girdle muscular dystrophy R20","type":"Disease"},{"orpha":2269,"name":"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","type":"Disease"},{"orpha":464,"name":"Incontinentia pigmenti","type":"Malformation syndrome"},{"orpha":1576,"name":"Infantile bilateral striatal necrosis","type":"Clinical group"},{"orpha":1313,"name":"Infantile choroidocerebral calcification syndrome","type":"Disease"},{"orpha":238455,"name":"Infantile dystonia-parkinsonism","type":"Disease"},{"orpha":522077,"name":"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome","type":"Disease"},{"orpha":565788,"name":"Infantile inflammatory bowel disease with neurological involvement","type":"Disease"},{"orpha":641353,"name":"Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome","type":"Disease"},{"orpha":77292,"name":"Infantile neurovisceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":263410,"name":"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","type":"Disease"},{"orpha":494526,"name":"Infantile-onset generalized dyskinesia with orofacial involvement","type":"Disease"},{"orpha":289483,"name":"Intellectual disability-alacrima-achalasia syndrome","type":"Disease"},{"orpha":468620,"name":"Intellectual disability-epilepsy-extrapyramidal syndrome","type":"Disease"},{"orpha":436151,"name":"Intellectual disability-expressive aphasia-facial dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":369847,"name":"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome","type":"Disease"},{"orpha":3068,"name":"Intellectual disability-myopathy-short stature-endocrine defect syndrome","type":"Disease"},{"orpha":2609,"name":"Isolated complex I deficiency","type":"Disease"},{"orpha":1460,"name":"Isolated complex III deficiency","type":"Disease"},{"orpha":254905,"name":"Isolated cytochrome C oxidase deficiency","type":"Disease"},{"orpha":99885,"name":"Isolated permanent neonatal diabetes mellitus","type":"Disease"},{"orpha":3208,"name":"Isolated succinate-CoQ reductase deficiency","type":"Disease"},{"orpha":33,"name":"Isovaleric acidemia","type":"Disease"},{"orpha":589827,"name":"Juvenile-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":439218,"name":"KCNQ2-related developmental and epileptic encephalopathy","type":"Disease"},{"orpha":100996,"name":"Kjellin syndrome","type":"Disease"},{"orpha":1571,"name":"Knobloch syndrome","type":"Malformation syndrome"},{"orpha":79314,"name":"L-2-hydroxyglutaric aciduria","type":"Disease"},{"orpha":275543,"name":"L1 syndrome","type":"Malformation syndrome"},{"orpha":258,"name":"Laminin subunit alpha 2-related congenital muscular dystrophy","type":"Malformation syndrome"},{"orpha":2375,"name":"Laryngeal abductor paralysis-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":231556,"name":"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome","type":"Disease"},{"orpha":65,"name":"Leber congenital amaurosis","type":"Disease"},{"orpha":137605,"name":"Legius syndrome","type":"Malformation syndrome"},{"orpha":2382,"name":"Lennox-Gastaut syndrome","type":"Disease"},{"orpha":1187,"name":"Lethal ataxia with deafness and optic atrophy","type":"Disease"},{"orpha":99843,"name":"Leukocyte adhesion deficiency type II","type":"Clinical subtype"},{"orpha":137898,"name":"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","type":"Disease"},{"orpha":686999,"name":"Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome","type":"Disease"},{"orpha":397941,"name":"MAN1B1-CDG","type":"Disease"},{"orpha":695110,"name":"MAN2B2-CDG","type":"Disease"},{"orpha":171851,"name":"MEDNIK syndrome","type":"Disease"},{"orpha":550,"name":"MELAS","type":"Disease"},{"orpha":79329,"name":"MGAT2-CDG","type":"Disease"},{"orpha":494433,"name":"MIRAGE syndrome","type":"Disease"},{"orpha":79330,"name":"MOGS-CDG","type":"Disease"},{"orpha":75858,"name":"MORM syndrome","type":"Disease"},{"orpha":79323,"name":"MPDU1-CDG","type":"Disease"},{"orpha":79319,"name":"MPI-CDG","type":"Disease"},{"orpha":597874,"name":"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome","type":"Disease"},{"orpha":647799,"name":"MYT1L-related developmental delay-intellectual disability-obesity syndrome","type":"Disease"},{"orpha":511,"name":"Maple syrup urine disease","type":"Disease"},{"orpha":692173,"name":"Marbach-Schaaf neurodevelopmental syndrome","type":"Disease"},{"orpha":559,"name":"Marinesco-Sjögren syndrome","type":"Disease"},{"orpha":565,"name":"Menkes disease","type":"Disease"},{"orpha":168598,"name":"Methionine adenosyltransferase I/III deficiency","type":"Disease"},{"orpha":2169,"name":"Methylcobalamin deficiency type cblE","type":"Clinical subtype"},{"orpha":26,"name":"Methylmalonic acidemia with homocystinuria","type":"Disease"},{"orpha":29,"name":"Mevalonic aciduria","type":"Clinical subtype"},{"orpha":2526,"name":"Microcephaly-chorioretinopathy-lymphedema syndrome","type":"Malformation syndrome"},{"orpha":457351,"name":"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","type":"Malformation syndrome"},{"orpha":1933,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","type":"Disease"},{"orpha":255235,"name":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","type":"Disease"},{"orpha":2598,"name":"Mitochondrial myopathy and sideroblastic anemia","type":"Disease"},{"orpha":502423,"name":"Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome","type":"Disease"},{"orpha":298,"name":"Mitochondrial neurogastrointestinal encephalomyopathy","type":"Disease"},{"orpha":52368,"name":"Mohr-Tranebjaerg syndrome","type":"Disease"},{"orpha":727719,"name":"Monoamine oxidase A and monoamine oxidase B deficiency","type":"Disease"},{"orpha":3057,"name":"Monoamine oxidase A deficiency","type":"Disease"},{"orpha":2573,"name":"Moyamoya disease","type":"Disease"},{"orpha":578,"name":"Mucolipidosis type IV","type":"Disease"},{"orpha":579,"name":"Mucopolysaccharidosis type 1","type":"Disease"},{"orpha":662216,"name":"Mucopolysaccharidosis type 10","type":"Disease"},{"orpha":580,"name":"Mucopolysaccharidosis type 2","type":"Disease"},{"orpha":581,"name":"Mucopolysaccharidosis type 3","type":"Disease"},{"orpha":584,"name":"Mucopolysaccharidosis type 7","type":"Disease"},{"orpha":2505,"name":"Multiple benign circumferential skin creases on limbs","type":"Disease"},{"orpha":644,"name":"NARP syndrome","type":"Disease"},{"orpha":662367,"name":"NESCAV syndrome","type":"Disease"},{"orpha":527497,"name":"NKX6-2-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":600663,"name":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance","type":"Malformation syndrome"},{"orpha":294023,"name":"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome","type":"Disease"},{"orpha":88639,"name":"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency","type":"Disease"},{"orpha":641361,"name":"Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome","type":"Disease"},{"orpha":647788,"name":"Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome","type":"Disease"},{"orpha":684240,"name":"Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome","type":"Malformation syndrome"},{"orpha":98907,"name":"Neutral lipid storage disease with ichthyosis","type":"Disease"},{"orpha":314647,"name":"Non-progressive cerebellar ataxia with intellectual disability","type":"Disease"},{"orpha":442835,"name":"Non-specific early-onset epileptic encephalopathy","type":"Disease"},{"orpha":35099,"name":"Non-syndromic bicoronal craniosynostosis","type":"Morphological anomaly"},{"orpha":649,"name":"Norrie disease","type":"Malformation syndrome"},{"orpha":496790,"name":"Ocular anomalies-axonal neuropathy-developmental delay syndrome","type":"Disease"},{"orpha":534,"name":"Oculocerebrorenal syndrome of Lowe","type":"Malformation syndrome"},{"orpha":543470,"name":"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome","type":"Disease"},{"orpha":401777,"name":"Optic atrophy-intellectual disability syndrome","type":"Disease"},{"orpha":664,"name":"Ornithine transcarbamylase deficiency","type":"Disease"},{"orpha":2780,"name":"Osteopathia striata-cranial sclerosis syndrome","type":"Malformation syndrome"},{"orpha":2785,"name":"Osteopetrosis with renal tubular acidosis","type":"Disease"},{"orpha":438134,"name":"PCNA-related progressive neurodegenerative photosensitivity syndrome","type":"Disease"},{"orpha":443811,"name":"PGM3-CDG","type":"Disease"},{"orpha":79318,"name":"PMM2-CDG","type":"Disease"},{"orpha":565899,"name":"POMGNT2-related limb-girdle muscular dystrophy R24","type":"Disease"},{"orpha":86812,"name":"POMT1-related limb-girdle muscular dystrophy R11","type":"Disease"},{"orpha":206559,"name":"POMT2-related limb-girdle muscular dystrophy R14","type":"Disease"},{"orpha":589515,"name":"PUM1-associated developmental disability-ataxia-seizure syndrome","type":"Disease"},{"orpha":2255,"name":"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","type":"Disease"},{"orpha":98811,"name":"Paroxysmal exertion-induced dyskinesia","type":"Disease"},{"orpha":94083,"name":"Partington syndrome","type":"Malformation syndrome"},{"orpha":702,"name":"Pelizaeus-Merzbacher disease","type":"Disease"},{"orpha":163746,"name":"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease","type":"Disease"},{"orpha":2971,"name":"Peroxisomal acyl-CoA oxidase deficiency","type":"Disease"},{"orpha":3222,"name":"Phosphoribosylpyrophosphate synthetase superactivity","type":"Disease"},{"orpha":2885,"name":"Piebald trait-neurologic defects syndrome","type":"Malformation syndrome"},{"orpha":95496,"name":"Pituitary stalk interruption syndrome","type":"Morphological anomaly"},{"orpha":453533,"name":"Polyendocrine-polyneuropathy syndrome","type":"Disease"},{"orpha":88628,"name":"Posterior column ataxia-retinitis pigmentosa syndrome","type":"Disease"},{"orpha":477673,"name":"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome","type":"Disease"},{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","type":"Etiological subtype"},{"orpha":620363,"name":"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome","type":"Disease"},{"orpha":564178,"name":"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome","type":"Disease"},{"orpha":357225,"name":"Primary non-essential cutis verticis gyrata","type":"Disease"},{"orpha":352447,"name":"Progressive external ophthalmoplegia-myopathy-emaciation syndrome","type":"Disease"},{"orpha":477814,"name":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","type":"Malformation syndrome"},{"orpha":308,"name":"Progressive myoclonic epilepsy type 1","type":"Disease"},{"orpha":263516,"name":"Progressive myoclonic epilepsy type 3","type":"Disease"},{"orpha":742,"name":"Prolidase deficiency","type":"Disease"},{"orpha":370079,"name":"Proximal 16p11.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":435638,"name":"Proximal 3p25.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":401768,"name":"Proximal myopathy with extrapyramidal signs","type":"Disease"},{"orpha":481665,"name":"Pseudo-TORCH syndrome type 2","type":"Disease"},{"orpha":714429,"name":"Pseudo-TORCH syndrome type 3","type":"Disease"},{"orpha":79443,"name":"Pseudohypoparathyroidism type 1A","type":"Disease"},{"orpha":760,"name":"Purine nucleoside phosphorylase deficiency","type":"Disease"},{"orpha":79096,"name":"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy","type":"Disease"},{"orpha":3006,"name":"Pyridoxine-dependent-developmental and epileptic encephalopathy","type":"Disease"},{"orpha":3008,"name":"Pyruvate carboxylase deficiency","type":"Disease"},{"orpha":765,"name":"Pyruvate dehydrogenase deficiency","type":"Disease"},{"orpha":438114,"name":"RARS-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":244310,"name":"RFT1-CDG","type":"Disease"},{"orpha":420741,"name":"RIDDLE syndrome","type":"Malformation syndrome"},{"orpha":280384,"name":"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome","type":"Disease"},{"orpha":480864,"name":"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome","type":"Disease"},{"orpha":726036,"name":"Red cell aplasia-microcephaly-seizure-developmental delay syndrome","type":"Disease"},{"orpha":791,"name":"Retinitis pigmentosa","type":"Disease"},{"orpha":778,"name":"Rett syndrome","type":"Disease"},{"orpha":177,"name":"Rhizomelic chondrodysplasia punctata","type":"Disease"},{"orpha":163721,"name":"Rolandic epilepsy-speech dyspraxia syndrome","type":"Disease"},{"orpha":633014,"name":"SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome","type":"Disease"},{"orpha":238459,"name":"SLC35A1-CDG","type":"Disease"},{"orpha":356961,"name":"SLC35A2-CDG","type":"Disease"},{"orpha":324737,"name":"SRD5A3-CDG","type":"Disease"},{"orpha":697734,"name":"ST3GAL3-CDG","type":"Disease"},{"orpha":370921,"name":"STT3A-CDG","type":"Disease"},{"orpha":370924,"name":"STT3B-CDG","type":"Disease"},{"orpha":599373,"name":"STXBP1-related developmental and epileptic encephalopathy","type":"Disease"},{"orpha":544254,"name":"SYNGAP1-related developmental and epileptic encephalopathy","type":"Disease"},{"orpha":794,"name":"Saethre-Chotzen syndrome","type":"Malformation syndrome"},{"orpha":466926,"name":"Seizures-scoliosis-macrocephaly syndrome","type":"Disease"},{"orpha":3157,"name":"Septo-optic dysplasia spectrum","type":"Malformation syndrome"},{"orpha":583595,"name":"Serine biosynthesis pathway deficiency, infantile/juvenile form","type":"Disease"},{"orpha":238329,"name":"Severe X-linked mitochondrial encephalomyopathy","type":"Disease"},{"orpha":675767,"name":"Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency","type":"Disease"},{"orpha":280763,"name":"Severe intellectual disability and progressive spastic paraplegia","type":"Disease"},{"orpha":397933,"name":"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome","type":"Disease"},{"orpha":500545,"name":"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract","type":"Disease"},{"orpha":812,"name":"Sialidosis type 1","type":"Disease"},{"orpha":816,"name":"Sjögren-Larsson syndrome","type":"Disease"},{"orpha":2818,"name":"Spastic paraplegia-glaucoma-intellectual disability syndrome","type":"Disease"},{"orpha":521390,"name":"Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome","type":"Malformation syndrome"},{"orpha":3011,"name":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","type":"Disease"},{"orpha":447997,"name":"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome","type":"Disease"},{"orpha":352403,"name":"Spectrin-associated autosomal recessive cerebellar ataxia","type":"Disease"},{"orpha":98763,"name":"Spinocerebellar ataxia type 14","type":"Disease"},{"orpha":98773,"name":"Spinocerebellar ataxia type 21","type":"Disease"},{"orpha":276183,"name":"Spinocerebellar ataxia type 32","type":"Disease"},{"orpha":3204,"name":"Stormorken-Sjaastad-Langslet syndrome","type":"Disease"},{"orpha":3205,"name":"Sturge-Weber syndrome","type":"Malformation syndrome"},{"orpha":22,"name":"Succinic semialdehyde dehydrogenase deficiency","type":"Disease"},{"orpha":1194,"name":"TMEM70-related mitochondrial encephalo-cardio-myopathy","type":"Disease"},{"orpha":363417,"name":"Temtamy preaxial brachydactyly syndrome","type":"Malformation syndrome"},{"orpha":65283,"name":"Timothy syndrome","type":"Malformation syndrome"},{"orpha":33364,"name":"Trichothiodystrophy","type":"Disease"},{"orpha":869,"name":"Triple A syndrome","type":"Disease"},{"orpha":805,"name":"Tuberous sclerosis complex","type":"Disease"},{"orpha":28378,"name":"Tyrosinemia type 2","type":"Disease"},{"orpha":466934,"name":"VPS11-related autosomal recessive hypomyelinating leukodystrophy","type":"Disease"},{"orpha":27,"name":"Vitamin B12-unresponsive methylmalonic acidemia","type":"Disease"},{"orpha":572798,"name":"WARS2-related combined oxidative phosphorylation defect","type":"Disease"},{"orpha":3464,"name":"Woodhouse-Sakati syndrome","type":"Disease"},{"orpha":64747,"name":"X-linked Charcot-Marie-Tooth disease","type":"Clinical group"},{"orpha":596,"name":"X-linked centronuclear myopathy","type":"Disease"},{"orpha":139396,"name":"X-linked cerebral adrenoleukodystrophy","type":"Clinical subtype"},{"orpha":85294,"name":"X-linked epilepsy-learning disabilities-behavior disorders syndrome","type":"Disease"},{"orpha":67045,"name":"X-linked intellectual disability with isolated growth hormone deficiency","type":"Clinical subtype"},{"orpha":730261,"name":"X-linked intellectual disability, Basilicata-Akhtar type","type":"Malformation syndrome"},{"orpha":85277,"name":"X-linked intellectual disability, Cantagrel type","type":"Malformation syndrome"},{"orpha":85290,"name":"X-linked intellectual disability, Wilson type","type":"Malformation syndrome"},{"orpha":85338,"name":"X-linked intellectual disability-ataxia-apraxia syndrome","type":"Disease"},{"orpha":324410,"name":"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome","type":"Disease"},{"orpha":2076,"name":"X-linked intellectual disability-epilepsy syndrome","type":"Clinical group"},{"orpha":457260,"name":"X-linked intellectual disability-hypotonia-movement disorder syndrome","type":"Disease"},{"orpha":423479,"name":"X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency","type":"Disease"},{"orpha":3077,"name":"X-linked intellectual disability-psychosis-macroorchidism syndrome","type":"Malformation syndrome"},{"orpha":85332,"name":"X-linked intellectual disability-retinitis pigmentosa syndrome","type":"Disease"},{"orpha":456328,"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","type":"Disease"},{"orpha":85334,"name":"X-linked neurodegenerative syndrome, Bertini type","type":"Disease"},{"orpha":85336,"name":"X-linked neurodegenerative syndrome, Hamel type","type":"Disease"},{"orpha":1175,"name":"X-linked progressive cerebellar ataxia","type":"Disease"},{"orpha":3175,"name":"X-linked spasticity-intellectual disability-epilepsy syndrome","type":"Disease"},{"orpha":85292,"name":"X-linked spinocerebellar ataxia type 4","type":"Disease"},{"orpha":910,"name":"Xeroderma pigmentosum","type":"Disease"},{"orpha":220295,"name":"Xeroderma pigmentosum-Cockayne syndrome complex","type":"Disease"},{"orpha":727861,"name":"YARS1-related multisystemic disease","type":"Disease"},{"orpha":50812,"name":"Zellweger-like syndrome without peroxisomal anomalies","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}