Genetic intellectual disability

Code	`1362108000`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20250401

77079400811p15.4 microduplication syndrome disorder

77349400814q24.1q24.3 microdeletion syndrome disorder

71958300217q11.2 microduplication syndrome disorder

122987300917q24.2 microdeletion syndrome disorder

122988300819p13.3 microduplication syndrome disorder

122989100420q11.2 microdeletion syndrome disorder

78717100621q22.11q22.12 microdeletion syndrome disorder

7707560082p13.2 microdeletion syndrome disorder

7707540062p21 microdeletion syndrome without cystinuria disorder

12226720023-methylglutaconic aciduria type 9 disorder

12514520034q25 proximal deletion syndrome disorder

7252890095-amino-4-imidazole carboxamide ribosiduria disorder

7707930025p13 microduplication syndrome disorder

12298950088q24.3 microdeletion syndrome disorder

12298750029q21.13 microdeletion syndrome disorder

7734930029q31.1q31.3 microdeletion syndrome disorder

12288860089q33.3q34.11 microdeletion syndrome disorder

766824003ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder disorder

774068004AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome None

1332385000AMeD syndrome disorder

787175002ANK3-related intellectual disability, sleep disturbance syndrome disorder

718573009Achalasia microcephaly syndrome disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

763797003Agenesis of corpus callosum and abnormal genitalia syndrome disorder

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

1208720000Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome disorder

702327009Allan-Herndon-Dudley syndrome disorder

720981000Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome disorder

720979002Alopecia, contracture, dwarfism, intellectual disability syndrome disorder

788417006Alopecia, epilepsy, intellectual disability syndrome Moynahan type disorder

770941005Alopecia, progressive neurological defect, endocrinopathy syndrome disorder

734349003Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 disorder

720982007Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome disorder

109478007Amelocerebrohypohidrotic syndrome disorder

76880004Angelman syndrome disorder

720468000Aniridia and intellectual disability syndrome disorder

733116005Aniridia, renal agenesis, psychomotor retardation syndrome disorder

1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome disorder

763615003Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome disorder

773583007Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome disorder

720502000Arachnodactyly and intellectual disability with facial dysmorphism syndrome disorder

720501007Arachnodactyly with abnormal ossification and intellectual disability syndrome disorder

702441001Arts syndrome disorder

720517001Ataxia with deafness and intellectual disability syndrome disorder

773769008Ataxia, photosensitivity, short stature syndrome disorder

718577005Atkin Flaitz syndrome disorder

778025006Atypical hypotonia cystinuria syndrome disorder

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

771512003Autism spectrum disorder due to AUTS2 deficiency disorder

1255319004Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome disorder

1304277005Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation disorder

1237625002Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency disorder

773498006Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency disorder

770898002Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency disorder

770404004Autosomal recessive chorioretinopathy and microcephaly syndrome disorder

1186734006Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction disorder

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

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

717945001BRESEK syndrome disorder

719097002BSG syndrome disorder

1258972007Baraitser Winter cerebrofrontofacial syndrome disorder

5619004Bardet-Biedl syndrome disorder

1187644009Basel Vanagaite Smirin Yosef syndrome disorder

717887003Biemond syndrome type 2 disorder

717913006Blepharonasofacial malformation syndrome disorder

788584007Blepharophimosis, intellectual disability syndrome disorder

1304113005Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome disorder

21634003Borjeson-Forssman-Lehmann syndrome disorder

732957009Brachydactyly and preaxial hallux varus syndrome disorder

765761009Brachydactyly, mesomelia, intellectual disability, heart defect syndrome disorder

720573009Brachymorphism with onychodysplasia and dysphalangism syndrome disorder

1169355000Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome disorder

732961003Branchial dysplasia, intellectual disability, inguinal hernia syndrome disorder

725589005Bullous dystrophy macular type disorder

715409005C syndrome disorder

726031001CAMOS syndrome disorder

703389002CASK related intellectual disability disorder

1332384001CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome disorder

1299154002CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome disorder

773230003CDKL5 developmental and epileptic encephalopathy disorder

1179408008CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome disorder

1332510002CHD4-related neurodevelopmental disorder disorder

1332508004CIMDAG syndrome disorder

773329005CK syndrome disorder

1172691004CLCN4-related X-linked intellectual disability syndrome disorder

1230376005CNTNAP2-related developmental and epileptic encephalopathy disorder

1340175001CPE-related Prader-Willi-like syndrome disorder

726621009Caudal appendage deafness syndrome disorder

726669007Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome disorder

763344007Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome disorder

720635002Cerebro-facio-thoracic dysplasia disorder

763353000Cerebrofacioarticular syndrome disorder

720855003Cerebrooculonasal syndrome disorder

763136000Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome disorder

389273002Cherubism with gingival fibromatosis disorder

702354007Christianson syndrome disorder

719808002Chromosome Xp11.3 microdeletion syndrome disorder

1300132009Clark Baraitser syndrome disorder

719466009Cleft palate with short stature and vertebral anomaly syndrome disorder

1335869007Cleft palate, congenital heart defect, intellectual disability syndrome disorder

15182000Coffin-Lowry syndrome disorder

10007009Coffin-Siris syndrome disorder

764455002Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

776204008Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome disorder

1173036000Combined oxidative phosphorylation defect type 23 disorder

1279845005Combined oxidative phosphorylation defect type 39 disorder

719102004Congenital cataract with ataxia and deafness syndrome disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

722379001Congenital cataract with hypertrichosis and intellectual disability syndrome disorder

1177169004Congenital cerebellar ataxia due to RNU12 mutation disorder

1255322002Congenital contracture of limbs and face, hypotonia, developmental delay syndrome disorder

719842006Congenital hypoplasia of ulna and intellectual disability syndrome disorder

1208936008Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome disorder

1237623009Congenital insensitivity to pain with severe intellectual disability disorder

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

782757004Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome disorder

783174004Congenital muscular dystrophy with intellectual disability disorder

782772000Congenital muscular dystrophy with intellectual disability and severe epilepsy disorder

1300188000Congenital pontocerebellar hypoplasia type 11 disorder

1300192007Congenital pontocerebellar hypoplasia type 14 disorder

720746006Contracture with ectodermal dysplasia and orofacial cleft syndrome disorder

720748007Cooper Jabs syndrome disorder

732251003Cortical blindness, intellectual disability, polydactyly syndrome disorder

763665007Craniodigital syndrome and intellectual disability syndrome disorder

1217229007Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome disorder

763320005Craniofaciofrontodigital syndrome disorder

1269224009Craniosynostosis, microretrognathia, severe intellectual disability syndrome disorder

17827007Cross syndrome disorder

764950001Cryptorchidism, arachnodactyly, intellectual disability syndrome disorder

720401009Cystic fibrosis with gastritis and megaloblastic anaemia syndrome disorder

720825005Cystic leucoencephalopathy without megalencephaly disorder

768843007DNMT3A-related overgrowth syndrome disorder

1179301003DYRK1A-related intellectual disability syndrome disorder

721087008Deafness and intellectual disability Martin Probst type syndrome disorder

773735007Deafness with onychodystrophy syndrome disorder

721086004Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome disorder

702423009Deafness-dystonia-optic neuronopathy syndrome disorder

721089006Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome disorder

770790004Developmental delay with autism spectrum disorder and gait instability disorder

787093004Developmental delay, facial dysmorphism syndrome due to MED13L deficiency disorder

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

50056009Dibasic amino aciduria type 1 disorder

766871009Diencephalic mesencephalic junction dysplasia disorder

719450007Disorder of sex development with intellectual disability syndrome disorder

230782004Dysequilibrium syndrome disorder

733050004Dysmorphism, short stature, deafness, disorder of sex development syndrome disorder

1351962002EGF-related primary hypomagnesaemia with intellectual disability disorder

716107009Early onset parkinsonism and intellectual disability syndrome disorder

1172627007Early-onset epilepsy, intellectual disability, brain anomalies syndrome 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

721208007Ectodermal dysplasia with blindness syndrome disorder

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

1236807002Encephalopathy due to mitochondrial and peroxisomal fission defect disorder

733049004Encephalopathy, intracerebral calcification, retinal degeneration syndrome disorder

733032006Epilepsy telangiectasia syndrome disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

766870005Epiphyseal dysplasia, hearing loss, dysmorphism syndrome disorder

771179007Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome disorder

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

1237179007FG syndrome type 1 disorder

716709002FRAXE intellectual disability syndrome disorder

763278004Facial dysmorphism, cleft palate, loose skin syndrome disorder

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

723333000Faciocardiorenal syndrome disorder

723336008Fallot complex with intellectual disability and growth delay syndrome disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

720954000Filippi syndrome disorder

720955004Fine Lubinsky syndrome disorder

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

720957007Fountain syndrome disorder

613003Fragile X syndrome disorder

718848000Fried syndrome disorder

1208344000Fryns Smeets Thiry syndrome disorder

721843003GAPO syndrome disorder

716024001GMS syndrome disorder

1186711002GNB5-related intellectual disability, cardiac arrhythmia syndrome disorder

770431001GRIN2A developmental and epileptic encephalopathy disorder

1260195002GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder disorder

1186730002Gabriele-de Vries syndrome disorder

253176002Gillespie syndrome disorder

1222658006Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome disorder

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

717822006Goldberg Shprintzen megacolon syndrome disorder

716096005Goldblatt Wallis syndrome disorder

1186713004Growth delay, intellectual disability, hepatopathy syndrome disorder

763186006Grubben, De Cock, Borghgraef syndrome disorder

765434008HIVEP2-related intellectual disability disorder

721007005Hair defect with photosensitivity and intellectual disability syndrome disorder

721008000Hall Riggs syndrome disorder

1360075006Hao Fountain syndrome disorder

716089008Harrod syndrome disorder

234146006Hennekam syndrome disorder

771149000Hepatic fibrosis, renal cyst, intellectual disability syndrome disorder

782911008Hereditary cryohydrocytosis with reduced stomatin disorder

1360079000Hereditary persistence of fetal haemoglobin, intellectual disability syndrome disorder

785726009Hyperekplexia epilepsy syndrome disorder

33982008Hyperphosphatasaemia with intellectual disability disorder

721841001Hypogonadism with mitral valve prolapse and intellectual disability syndrome disorder

773553003Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome disorder

763722004Hypotonia, speech impairment, severe cognitive delay syndrome disorder

723365002Hypotrichosis and intellectual disability syndrome Lopes type disorder

763404001Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome disorder

733097003Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome disorder

770725000Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly disorder

724228005Infantile choroidocerebral calcification syndrome disorder

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

1186721005Infantile inflammatory bowel disease with neurological involvement disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

1303585005Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome disorder

782886007Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome disorder

1260129000Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome disorder

764861005Intellectual disability Birk-Barel type disorder

725906006Intellectual disability Buenos Aires type disorder

763745005Intellectual disability Wolff type disorder

773405004Intellectual disability with strabismus syndrome disorder

763741001Intellectual disability, alacrima, achalasia syndrome disorder

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

763744009Intellectual disability, brachydactyly, Pierre Robin syndrome disorder

1186729007Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome disorder

726709001Intellectual disability, cataract, calcified pinna, myopathy syndrome disorder

782753000Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome disorder

773581009Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome disorder

722454003Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome disorder

1351837003Intellectual disability, cupped ears syndrome disorder

722456001Intellectual disability, developmental delay, contracture syndrome disorder

1351838008Intellectual disability, early-onset cataract, microcephaly syndrome disorder

721146009Intellectual disability, epilepsy, bulbous nose syndrome disorder

1187210007Intellectual disability, epilepsy, extrapyramidal syndrome disorder

1197593006Intellectual disability, expressive aphasia, facial dysmorphism syndrome disorder

782736007Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency disorder

773416006Intellectual disability, facial dysmorphism, hand anomalies syndrome disorder

773552008Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome disorder

787174003Intellectual disability, hyperkinetic movement, truncal ataxia syndrome disorder

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

773621003Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome disorder

1254652005Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome disorder

1208746001Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome disorder

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

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

774102003Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome disorder

763742008Intellectual disability, polydactyly, uncombable hair syndrome disorder

1177167002Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome disorder

770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder

770750002Intellectual disability, seizures, macrocephaly, obesity syndrome disorder

774203000Intellectual disability, severe speech delay, mild dysmorphism syndrome disorder

771077007Intellectual disability, short stature, hypertelorism syndrome disorder

763743003Intellectual disability, spasticity, ectrodactyly syndrome disorder

1373748007Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome disorder

771470001Jawad syndrome disorder

770907002Kagami Ogata syndrome disorder

722031003Kapur Toriello syndrome disorder

715989002Karandikar Maria Kamble syndrome disorder

716112005Kawashima Tsuji syndrome disorder

1220589007Keppen Lubinsky syndrome disorder

724207001Kleefstra syndrome disorder

716996008L1 syndrome disorder

1251453008Lamb Shaffer syndrome disorder

724178000Laryngeal abductor paralysis with intellectual disability syndrome disorder

773692000Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome disorder

232059000Laurence-Moon syndrome disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

79385002Lowe syndrome disorder

721974000Lowry MacLean syndrome disorder

1351843001Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome disorder

722035007MEDNIK syndrome disorder

722037004MEHMO syndrome disorder

724137002MOMO syndrome disorder

715628009MORM syndrome disorder

1303866001MYT1L-related developmental delay, intellectual disability, obesity syndrome disorder

763773007Macrocephaly and developmental delay syndrome disorder

783089006Macrocephaly, intellectual disability, autism syndrome disorder

1187642008Macrocephaly, intellectual disability, left ventricular non compaction syndrome disorder

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

722033000Macrocephaly, short stature, paraplegia syndrome disorder

1172685001Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome disorder

763795006Malan overgrowth syndrome disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

733062000Marfanoid habitus with autosomal recessive intellectual disability syndrome disorder

715441004McDonough syndrome disorder

1230273004Megaconial congenital muscular dystrophy disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

733522005Megalocornea with intellectual disability syndrome disorder

1260095004Menke Hennekam syndrome disorder

733419006Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome disorder

1179283004Metopic ridging, ptosis, facial dysmorphism syndrome disorder

723403008Microbrachycephaly, ptosis, cleft lip syndrome disorder

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

770564004Microcephalic primordial dwarfism Alazami type disorder

770565003Microcephalic primordial dwarfism Dauber type disorder

765758008Microcephalic primordial dwarfism Montreal type disorder

719380003Microcephalus cardiomyopathy syndrome disorder

719378009Microcephalus with brachydactyly and kyphoscoliosis syndrome disorder

764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder

733472005Microcephalus, glomerulonephritis, marfanoid habitus syndrome disorder

1167375003Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome disorder

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

1254651003Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome disorder

723304001Microcephaly, seizure, intellectual disability, heart disease syndrome disorder

771074000Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome disorder

770721009Microcephaly, thin corpus callosum, intellectual disability syndrome disorder

1187114007Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome disorder

717222003Microphthalmia with ankyloblepharon and intellectual disability syndrome disorder

720010009Microphthalmia with brain atrophy syndrome disorder

703535000Mowat-Wilson syndrome disorder

785298001Muscle eye brain disease with bilateral multicystic leukodystrophy disorder

699316006Myhre syndrome disorder

723410002N syndrome disorder

1237462006NDE1-related microhydranencephaly disorder

1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder

1300131002NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance disorder

1303586006Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome disorder

1363573005Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome disorder

1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder

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

725908007Neurofaciodigitorenal syndrome disorder

1373770005Neuronal ceroid lipofuscinosis type 8 disorder

766753005Nijmegen breakage syndrome-like disorder disorder

723441001Non-progressive cerebellar ataxia with intellectual disability disorder

1187038009Non-specific syndromic intellectual disability disorder

722056009Oculocerebrofacial syndrome Kaufman type disorder

722055008Oculopalatocerebral syndrome disorder

721017000Oliver syndrome disorder

782945001Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome disorder

770723007Optic atrophy, intellectual disability syndrome disorder

722075004Oro-facial digital syndrome type 10 disorder

718681002Oro-facial digital syndrome type 11 disorder

763837007Oro-facial digital syndrome type 14 disorder

722105002Oro-facial digital syndrome type 5 disorder

722106001Oro-facial digital syndrome type 8 disorder

718680001Oro-facial digital syndrome type 9 disorder

722107005Ossification anomaly with psychomotor developmental delay syndrome disorder

722110003Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome disorder

732954002Osteopenia, intellectual disability, sparse hair syndrome disorder

716706009PCDH19 clustering epilepsy disorder

1236843008PDE4D haploinsufficiency syndrome disorder

1208987006PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome disorder

1172899000PMP22-RAI1 contiguous gene duplication syndrome disorder

702356009PPM-X syndrome disorder

1222657001PRUNE1-related neurological syndrome disorder

1260097007PUM1-associated developmental disability, ataxia, seizure syndrome disorder

1237421000PYCR2-related microcephaly, progressive leucoencephalopathy disorder

763861000Pachygyria, intellectual disability, epilepsy syndrome disorder

1172889005Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome disorder

719020006Pallister W syndrome disorder

702412005Partington syndrome disorder

765325002Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease disorder

716191002Perniola Krajewska Carnevale syndrome disorder

719139003Pettigrew syndrome disorder

723454008Phosphoribosylpyrophosphate synthetase superactivity disorder

773984007Piebald trait with neurologic defects syndrome disorder

1220594007Pierpont syndrome disorder

702344008Pitt-Hopkins syndrome disorder

1167371007Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome disorder

771336003Polymicrogyria with optic nerve hypoplasia disorder

770679002Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome disorder

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

1173998003Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome disorder

702346005Potocki-Shaffer syndrome disorder

733088002Preaxial polydactyly, colobomata, intellectual disability syndrome disorder

719140001Prieto Badia Mulas syndrome disorder

1351854006Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome disorder

1269236003Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome disorder

782755007Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome disorder

1208481000Progressive cerebello-cerebral atrophy disorder

1260130005Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome disorder

1187303004Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome disorder

236529001Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness disorder

771262009Pseudoleprechaunism syndrome Patterson type disorder

733086003Pseudoprogeria syndrome disorder

724039002Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency disorder

1220568003QRICH1-related intellectual disability, chondrodysplasia syndrome disorder

772225005RAB18 deficiency disorder

1220600004RARS-related autosomal recessive hypomyelinating leucodystrophy disorder

1172624000RERE-related neurodevelopmental syndrome disorder

721883006Radioulnar synostosis with developmental delay and hypotonia syndrome disorder

719162001Radioulnar synostosis with microcephaly and scoliosis syndrome disorder

723504000Ramos Arroyo syndrome disorder

773772001Rare non-syndromic intellectual disability disorder

1172698005Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome disorder

699669001Renpenning syndrome disorder

724001005Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome disorder

1220597000Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome disorder

68618008Rett syndrome disorder

782941005Richieri Costa-da Silva syndrome disorder

773404000Roifman syndrome disorder

1208488006SATB2-associated syndrome disorder

734173003SCARF syndrome disorder

765170001SCN8A developmental and epileptic encephalopathy disorder

1300119004SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome disorder

1367656002SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome disorder

1300198006SMARCA2-related blepharophimosis, intellectual disability syndrome disorder

1187041000STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome disorder

1222656005SYNGAP1-related developmental and epileptic encephalopathy disorder

1197148005Sanjad Sakati syndrome disorder

722002002Scholte syndrome disorder

57917004Seckel syndrome disorder

721207002Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome disorder

723994004Seizures and intellectual disability due to hydroxylysinuria disorder

1187250005Seizures, scoliosis, macrocephaly syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

773400009Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome disorder

1172629005Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome disorder

778011005Severe intellectual disability and progressive spastic paraplegia 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

1197591008Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome disorder

773551001Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome disorder

774149004Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome disorder

782723007Severe intellectual disability, progressive spastic diplegia syndrome disorder

773419004Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome disorder

783005002Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome disorder

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

1179282009Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

721073008Short stature with webbed neck and congenital heart disease syndrome disorder

1187277001Short stature, brachydactyly, obesity, global developmental delay syndrome disorder

1237512003Short stature, developmental delay, congenital heart defect syndrome disorder

1284851009Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome disorder

726672000Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome disorder

773556006Short ulna, dysmorphism, hypotonia, intellectual disability syndrome disorder

719069008Shprintzen Goldberg craniosynostosis syndrome disorder

715428003Skeletal dysplasia with epilepsy and short stature syndrome disorder

722478008Skeletal dysplasia with intellectual disability syndrome disorder

1177175008Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome disorder

702416008Snyder-Robinson syndrome disorder

732958004Spastic paraplegia with precocious puberty syndrome disorder

733455003Spastic paraplegia, glaucoma, intellectual disability syndrome disorder

1260134001Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome disorder

722209002Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome disorder

1187278006Spastic paraplegia, severe developmental delay, epilepsy syndrome disorder

723621000Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome disorder

1237418002Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome disorder

773303005Spondyloepimetaphyseal dysplasia Genevieve type disorder

719202006Spondyloepiphyseal dysplasia tarda Kohn type disorder

718766002Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome disorder

1356736002Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome disorder

1269226006Spondylometaphyseal dysplasia, corneal dystrophy syndrome disorder

733072002Stimmler syndrome disorder

719161008Syndromic X-linked intellectual disability due to JARID1C mutation disorder

718900002Syndromic X-linked intellectual disability type 11 disorder

719160009Syndromic X-linked intellectual disability type 7 disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

773554009THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome disorder

1169359006Tall stature, intellectual disability, renal anomalies syndrome disorder

725140007Temple Baraitser syndrome disorder

777998000Temtamy preaxial brachydactyly syndrome disorder

719947004Temtamy syndrome disorder

733117001Thumb stiffness, brachydactyly, intellectual disability syndrome disorder

722477003Toriello Carey syndrome disorder

716334004Urban Rogers Meyer syndrome disorder

719042007Uveal coloboma with cleft lip and palate and intellectual disability syndrome disorder

1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy disorder

733110004Van den Bosch syndrome disorder

1187247007WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome disorder

1260128008WARS2-related combined oxidative phosphorylation defect disorder

726670008Weaver Williams syndrome disorder

772127009White Sutton syndrome disorder

783703004White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome disorder

763618001Wiedemann Steiner syndrome disorder

719834005Wilson Turner syndrome disorder

1187122000Witteveen Kolk syndrome disorder

718226002Wolf Hirschhorn syndrome disorder

816067005Woodhouse Sakati syndrome disorder

770604006X-linked cerebral, cerebellar, coloboma syndrome disorder

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

1172697000X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability disorder

719018008X-linked intellectual disability Abidi type disorder

719017003X-linked intellectual disability Armfield type disorder

719811001X-linked intellectual disability Cabezas type disorder

719016007X-linked intellectual disability Cantagrel type disorder

719013004X-linked intellectual disability Cilliers type disorder

726727003X-linked intellectual disability Hedera type disorder

719012009X-linked intellectual disability Miles Carpenter type disorder

726732002X-linked intellectual disability Nascimento type disorder

719011002X-linked intellectual disability Pai type disorder

719010001X-linked intellectual disability Schimke type disorder

718897009X-linked intellectual disability Seemanova type disorder

718905007X-linked intellectual disability Shrimpton type disorder

718908009X-linked intellectual disability Siderius type disorder

718909001X-linked intellectual disability Stevenson type disorder

718910006X-linked intellectual disability Stocco Dos Santos type disorder

718911005X-linked intellectual disability Stoll type disorder

718912003X-linked intellectual disability Turner type disorder

718914002X-linked intellectual disability Van Esch type disorder

719009006X-linked intellectual disability Wilson type disorder

719155005X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome disorder

719157002X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome disorder

783702009X-linked intellectual disability due to GRIA3 mutations disorder

1156584007X-linked intellectual disability hypotonic face syndrome disorder

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

718845002X-linked intellectual disability with ataxia and apraxia syndrome disorder

719136005X-linked intellectual disability with cerebellar hypoplasia syndrome disorder

719138006X-linked intellectual disability with cubitus valgus and dysmorphism syndrome disorder

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

422437002X-linked intellectual disability with marfanoid habitus disorder

719812008X-linked intellectual disability with plagiocephaly syndrome disorder

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

773587008X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome disorder

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

773274001X-linked intellectual disability, craniofacioskeletal syndrome disorder

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

765471005X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome disorder

1254654006X-linked intellectual disability, hypotonia, movement disorder syndrome disorder

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

719825000X-linked intellectual disability, macrocephaly, macroorchidism syndrome disorder

1255335006X-linked intellectual disability, short stature, overweight syndrome disorder

1197588008X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome disorder

718847005X-linked neurodegenerative syndrome Hamel type disorder

718896000X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome disorder

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

773418007XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation disorder

1229872004Xq25 microduplication syndrome disorder

773307006Zechi Ceide syndrome disorder

59252009de Barsey syndrome disorder

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