| children | - 11p15.4 microduplication syndrome 770794008
- 11q22.2q22.3 microdeletion syndrome 1229882003
- 12q14 microdeletion syndrome 719046005
- 13q12.3 microdeletion syndrome 773547003
- 14q24.1q24.3 microdeletion syndrome 773494008
- 14q32 deletion syndrome 879939002
- 15q overgrowth syndrome 771477003
- 16p13.2 microdeletion syndrome 1228890005
- 17q11.2 microduplication syndrome 719583002
- 17q24.2 microdeletion syndrome 1229873009
- 19p13.3 microduplication syndrome 1229883008
- 19q13.11 microdeletion syndrome 719599008
- 1p21.3 microdeletion syndrome 719600006
- 20q11.2 microdeletion syndrome 1229891004
- 21q22.11q22.12 microdeletion syndrome 787171006
- 2p13.2 microdeletion syndrome 770756008
- 3q27.3 microdeletion syndrome 770719004
- 4q25 proximal deletion syndrome 1251452003
- 5-amino-4-imidazole carboxamide ribosiduria 725289009
- 5p13 microduplication syndrome 770793002
- 8q24.3 microdeletion syndrome 1229895008
- 9q21.13 microdeletion syndrome 1229875002
- 9q31.1q31.3 microdeletion syndrome 773493002
- 9q33.3q34.11 microdeletion syndrome 1228886008
- Achalasia microcephaly syndrome 718573009
- ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Agenesis of corpus callosum and abnormal genitalia syndrome 763797003
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000
- AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 774068004
- Allan-Herndon-Dudley syndrome 702327009
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, contracture, dwarfism, intellectual disability syndrome 720979002
- Alopecia, epilepsy, intellectual disability syndrome Moynahan type 788417006
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003
- Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007
- Angelman syndrome 76880004
- Aniridia and intellectual disability syndrome 720468000
- Aniridia, renal agenesis, psychomotor retardation syndrome 733116005
- ANK3-related intellectual disability, sleep disturbance syndrome 787175002
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome 763615003
- Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007
- Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000
- Arachnodactyly with abnormal ossification and intellectual disability syndrome 720501007
- Arts syndrome 702441001
- Ataxia with deafness and intellectual disability syndrome 720517001
- Ataxia, photosensitivity, short stature syndrome 773769008
- Atkin Flaitz syndrome 718577005
- Atypical hypotonia cystinuria syndrome 778025006
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 771448004
- Autism spectrum disorder due to AUTS2 deficiency 771512003
- Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002
- Autosomal recessive chorioretinopathy and microcephaly syndrome 770404004
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 1186734006
- Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome 770901001
- Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007
- Baraitser Winter cerebrofrontofacial syndrome 1258972007
- Bardet-Biedl syndrome 5619004
- Basel Vanagaite Smirin Yosef syndrome 1187644009
- Biemond syndrome type 2 717887003
- Blepharonasofacial malformation syndrome 717913006
- Blepharophimosis, intellectual disability syndrome 788584007
- Borderline intellectual disability 77287004
- Borjeson-Forssman-Lehmann syndrome 21634003
- Brachydactyly and preaxial hallux varus syndrome 732957009
- Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009
- Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome 1169355000
- Branchial dysplasia, intellectual disability, inguinal hernia syndrome 732961003
- BRESEK syndrome 717945001
- BSG syndrome 719097002
- Bullous dystrophy macular type 725589005
- C syndrome 715409005
- CAMOS syndrome 726031001
- Carpenter Waziri syndrome 719101006 removed: 2021-07-31
- CASK related intellectual disability 703389002
- Caudal appendage deafness syndrome 726621009
- Central nervous system calcification, deafness, tubular acidosis, anemia syndrome 726669007
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Cerebro-facio-thoracic dysplasia 720635002
- Cerebrofacioarticular syndrome 763353000
- Cerebrooculonasal syndrome 720855003
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome 763136000
- CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome 1179408008
- Christianson syndrome 702354007
- Chromosome Xp11.3 microdeletion syndrome 719808002
- Chudley Lowry Hoar syndrome 717763008 removed: 2021-07-31
- CK syndrome 773329005
- CLCN4-related X-linked intellectual disability syndrome 1172691004
- Cleft palate with short stature and vertebral anomaly syndrome 719466009
- CNTNAP2-related developmental and epileptic encephalopathy 1230376005
- Coffin-Lowry syndrome 15182000
- Coffin-Siris syndrome 10007009
- Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome 764455002
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Combined oxidative phosphorylation defect type 23 1173036000
- Combined oxidative phosphorylation defect type 39 1279845005
- Congenital cataract with ataxia and deafness syndrome 719102004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital cerebellar ataxia due to RNU12 mutation 1177169004
- Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002
- Congenital hypoplasia of ulna and intellectual disability syndrome 719842006
- Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome 1208936008
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Congenital muscular dystrophy with intellectual disability 783174004
- Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000
- Contracture with ectodermal dysplasia and orofacial cleft syndrome 720746006
- Cooper Jabs syndrome 720748007
- Cortical blindness, intellectual disability, polydactyly syndrome 732251003
- Craniodigital syndrome and intellectual disability syndrome 763665007
- Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007
- Craniofaciofrontodigital syndrome 763320005
- Cross syndrome 17827007
- Cryptorchidism, arachnodactyly, intellectual disability syndrome 764950001
- Cyclin-dependent kinase-like 5 deficiency 773230003
- Cystic fibrosis with gastritis and megaloblastic anemia syndrome 720401009
- Cystic leukoencephalopathy without megalencephaly 720825005
- de Barsey syndrome 59252009
- Deafness and intellectual disability Martin Probst type syndrome 721087008
- Deafness with onychodystrophy syndrome 773735007
- Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 721086004
- Deafness-dystonia-optic neuronopathy syndrome 702423009
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome 721089006
- Developmental delay with autism spectrum disorder and gait instability 770790004
- Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004
- Diencephalic mesencephalic junction dysplasia 766871009
- Disorder of sex development with intellectual disability syndrome 719450007
- DNMT3A-related overgrowth syndrome 768843007
- DYRK1A-related intellectual disability syndrome 1179301003
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- Early onset parkinsonism and intellectual disability syndrome 716107009
- Early-onset epilepsy, intellectual disability, brain anomalies syndrome 1172627007
- 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 seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007
- Ectodermal dysplasia with blindness syndrome 721208007
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Encephalopathy due to mitochondrial and peroxisomal fission defect 1236807002
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Epilepsy telangiectasia syndrome 733032006
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epiphyseal dysplasia, hearing loss, dysmorphism syndrome 766870005
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome 771179007
- Facial dysmorphism, cleft palate, loose skin syndrome 763278004
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
- Faciocardiorenal syndrome 723333000
- Fallot complex with intellectual disability and growth delay syndrome 723336008
- FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008
- Female restricted epilepsy with intellectual disability syndrome 716706009
- FG syndrome type 1 1237179007
- Filippi syndrome 720954000
- Fine Lubinsky syndrome 720955004
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome 765089003
- Fountain syndrome 720957007
- Fragile X syndrome 613003
- FRAXE intellectual disability syndrome 716709002
- Fried syndrome 718848000
- Gabriele-de Vries syndrome 1186730002
- GAPO syndrome 721843003
- Gillespie syndrome 253176002
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
- Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome 1172630000
- GMS syndrome 716024001
- GNB5-related intellectual disability, cardiac arrhythmia syndrome 1186711002
- Goldberg Shprintzen megacolon syndrome 717822006
- Goldblatt Wallis syndrome 716096005
- GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder 1260195002
- Growth delay, intellectual disability, hepatopathy syndrome 1186713004
- Grubben, De Cock, Borghgraef syndrome 763186006
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- Hall Riggs syndrome 721008000
- Harrod syndrome 716089008
- Hennekam syndrome 234146006
- Hepatic fibrosis, renal cyst, intellectual disability syndrome 771149000
- Hereditary cryohydrocytosis with reduced stomatin 782911008
- HIVEP2-related intellectual disability 765434008
- Holmes Gang syndrome 721224008 removed: 2021-07-31
- Hyperekplexia epilepsy syndrome 785726009
- Hyperphosphatasemia with mental retardation 33982008
- Hypogonadism with mitral valve prolapse and intellectual disability syndrome 721841001
- Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome 773553003
- Hypotonia, speech impairment, severe cognitive delay syndrome 763722004
- Hypotrichosis and intellectual disability syndrome Lopes type 723365002
- Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome 763404001
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome 733097003
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 770725000
- Infantile choroidocerebral calcification syndrome 724228005
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome 1217371005
- Infantile inflammatory bowel disease with neurological involvement 1186721005
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome 782886007
- Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome 1260129000
- Intellectual disability Birk-Barel type 764861005
- Intellectual disability Buenos Aires type 725906006
- Intellectual disability due to nutritional deficiency 763626009
- Intellectual disability with cataract and kyphosis syndrome 722003007 removed: 2023-02-28
- Intellectual disability with strabismus syndrome 773405004
- Intellectual disability Wolff type 763745005
- Intellectual disability, alacrima, achalasia syndrome 763741001
- Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1217382002
- Intellectual disability, brachydactyly, Pierre Robin syndrome 763744009
- Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome 1186729007
- Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome 773581009
- Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome 722454003
- Intellectual disability, developmental delay, contracture syndrome 722456001
- Intellectual disability, epilepsy, bulbous nose syndrome 721146009
- Intellectual disability, epilepsy, extrapyramidal syndrome 1187210007
- Intellectual disability, expressive aphasia, facial dysmorphism syndrome 1197593006
- Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency 782736007
- Intellectual disability, facial dysmorphism, hand anomalies syndrome 773416006
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome 773552008
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome 787174003
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome 773621003
- Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005
- Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome 1208746001
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome 763350002
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- Intellectual disability, polydactyly, uncombable hair syndrome 763742008
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome 1177167002
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- Intellectual disability, seizures, macrocephaly, obesity syndrome 770750002
- Intellectual disability, severe speech delay, mild dysmorphism syndrome 774203000
- Intellectual disability, short stature, hypertelorism syndrome 771077007
- Intellectual disability, spasticity, ectrodactyly syndrome 763743003
- Isodicentric chromosome 15 syndrome 723332005
- Jawad syndrome 771470001
- Kagami Ogata syndrome 770907002
- Kapur Toriello syndrome 722031003
- Karandikar Maria Kamble syndrome 715989002
- Kawashima Tsuji syndrome 716112005
- Kleefstra syndrome 724207001
- Kohlschutter's syndrome 109478007
- L1 syndrome 716996008
- Lamb Shaffer syndrome 1251453008
- Laryngeal abductor paralysis with intellectual disability syndrome 724178000
- Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome 773692000
- Laurence-Moon syndrome 232059000
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lowe syndrome 79385002
- Lowry MacLean syndrome 721974000
- Macrocephaly and developmental delay syndrome 763773007
- Macrocephaly, intellectual disability, autism syndrome 783089006
- Macrocephaly, intellectual disability, left ventricular non compaction syndrome 1187642008
- Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005
- Macrocephaly, short stature, paraplegia syndrome 722033000
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001
- Malan overgrowth syndrome 763795006
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Marfanoid habitus with autosomal recessive intellectual disability syndrome 733062000
- McDonough syndrome 715441004
- MEDNIK syndrome 722035007
- Megaconial congenital muscular dystrophy 1230273004
- Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
- Megalocornea with intellectual disability syndrome 733522005
- MEHMO syndrome 722037004
- Menke Hennekam syndrome 1260095004
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Metopic ridging, ptosis, facial dysmorphism syndrome 1179283004
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephalic primordial dwarfism Alazami type 770564004
- Microcephalic primordial dwarfism Dauber type 770565003
- Microcephalic primordial dwarfism Montreal type 765758008
- Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome 719396000 removed: 2019-07-31
- Microcephalus cardiomyopathy syndrome 719380003
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004
- Microcephalus, digital anomaly, intellectual disability syndrome 733090001 removed: 2019-01-31
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome 733472005
- Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome 1167375003
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Microcephaly, seizure, intellectual disability, heart disease syndrome 723304001
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome 771074000
- Microcephaly, thin corpus callosum, intellectual disability syndrome 770721009
- Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome 1187114007
- Microphthalmia with ankyloblepharon and intellectual disability syndrome 717222003
- Mild intellectual disability 86765009
- Moderate intellectual disability 61152003
- MOMO syndrome 724137002
- MORM syndrome 715628009
- Mowat-Wilson syndrome 703535000
- Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
- Myhre syndrome 699316006
- N syndrome 723410002
- NDE1-related microhydranencephaly 1237462006
- Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome 1217381009
- Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 1222710008
- Neurofaciodigitorenal syndrome 725908007
- Neuronal ceroid lipofuscinosis 8 703526007
- Nijmegen breakage syndrome-like disorder 766753005
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-progressive cerebellar ataxia with intellectual disability 723441001
- Non-specific syndromic intellectual disability 1187038009
- Oculocerebrofacial syndrome Kaufman type 722056009
- Oculopalatocerebral syndrome 722055008
- Okamoto syndrome 722065002
- Oliver syndrome 721017000
- Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome 782945001
- Optic atrophy, intellectual disability syndrome 770723007
- Oro-facial digital syndrome type 10 722075004
- Oro-facial digital syndrome type 11 718681002
- Oro-facial digital syndrome type 14 763837007
- Oro-facial digital syndrome type 5 722105002
- Oro-facial digital syndrome type 8 722106001
- Oro-facial digital syndrome type 9 718680001
- Ossification anomaly with psychomotor developmental delay syndrome 722107005
- Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome 722110003
- Osteopenia, intellectual disability, sparse hair syndrome 732954002
- Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome 722111004 removed: 2022-06-30
- Pachygyria, intellectual disability, epilepsy syndrome 763861000
- Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome 1172889005
- Pallister W syndrome 719020006
- Paraplegia, brachydactyly, cone-shaped epiphysis syndrome 725292008 removed: 2019-07-31
- Partington syndrome 702412005
- PDE4D haploinsufficiency syndrome 1236843008
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
- Perniola Krajewska Carnevale syndrome 716191002
- Pettigrew syndrome 719139003
- PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome 1208987006
- Phosphoribosylpyrophosphate synthetase superactivity 723454008
- Piebald trait with neurologic defects syndrome 773984007
- Pierpont syndrome 1220594007
- Pitt-Hopkins syndrome 702344008
- PMP22-RAI1 contiguous gene duplication syndrome 1172899000
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome 1167371007
- Polymicrogyria with optic nerve hypoplasia 771336003
- Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome 770679002
- Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome 1173998003
- PPM-X syndrome 702356009
- PPP2R5D-related intellectual disability 768677000
- Preaxial polydactyly, colobomata, intellectual disability syndrome 733088002
- Prieto Badia Mulas syndrome 719140001
- Primary hypomagnesemia, refractory seizures, intellectual disability syndrome 1269236003
- Profound mental retardation (I.Q. below 20) 31216003
- Progressive cerebello-cerebral atrophy 1208481000
- Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome 1260130005
- Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome 1187303004
- Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness 236529001
- PRUNE1-related neurological syndrome 1222657001
- Pseudoleprechaunism syndrome Patterson type 771262009
- Pseudoprogeria syndrome 733086003
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 724039002
- PUM1-associated developmental disability, ataxia, seizure syndrome 1260097007
- PURA syndrome 768473009
- PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000
- QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003
- RAB18 deficiency 772225005
- Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006
- Radioulnar synostosis with microcephaly and scoliosis syndrome 719162001
- Ramos Arroyo syndrome 723504000
- Rare non-syndromic intellectual disability 773772001
- RARS-related autosomal recessive hypomyelinating leukodystrophy 1220600004
- Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome 1172698005
- Renier Gabreels Jasper syndrome 723501008 removed: 2021-07-31
- Renpenning syndrome 699669001
- RERE-related neurodevelopmental syndrome 1172624000
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000
- Rett syndrome 68618008
- Richieri Costa-da Silva syndrome 782941005
- Roifman syndrome 773404000
- Sanjad Sakati syndrome 1197148005
- SATB2-associated syndrome 1208488006
- Savant syndrome 432091002
- SCARF syndrome 734173003
- Scholte syndrome 722002002
- SCN8A-related epilepsy with encephalopathy 765170001
- Seckel syndrome 57917004
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome 721207002
- Seizures and intellectual disability due to hydroxylysinuria 723994004
- Seizures, scoliosis, macrocephaly syndrome 1187250005
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome 773400009
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome 773551001
- Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome 773419004
- Severe mental retardation (I.Q. 20-34) 40700009
- Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome 783005002
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract 1179282009
- Severe oculo-renal-cerebellar syndrome 1208341008
- Severe X-linked intellectual disability Gustavson type 722213009
- Short stature with webbed neck and congenital heart disease syndrome 721073008
- Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001
- Short stature, developmental delay, congenital heart defect syndrome 1237512003
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome 773556006
- Shprintzen Goldberg craniosynostosis syndrome 719069008
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- Skeletal dysplasia with intellectual disability syndrome 722478008
- Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome 1177175008
- Smith Fineman Myers syndrome 719212004 removed: 2021-07-31
- Snyder-Robinson syndrome 702416008
- Spastic paraplegia with precocious puberty syndrome 732958004
- Spastic paraplegia, glaucoma, intellectual disability syndrome 733455003
- Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome 1260134001
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome 722209002
- Spastic paraplegia, severe developmental delay, epilepsy syndrome 1187278006
- Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome 723621000
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome 1237418002
- Spondyloepimetaphyseal dysplasia Genevieve type 773303005
- Spondyloepiphyseal dysplasia tarda Kohn type 719202006
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002
- Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006
- STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome 1187041000
- Stimmler syndrome 733072002
- Syndromic X-linked intellectual disability due to JARID1C mutation 719161008
- Syndromic X-linked intellectual disability type 11 718900002
- Syndromic X-linked intellectual disability type 7 719160009
- SYNGAP1-related developmental and epileptic encephalopathy 1222656005
- SYNGAP1-related intellectual disability 780827006
- Tall stature, intellectual disability, renal anomalies syndrome 1169359006
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- Temple Baraitser syndrome 725140007
- Temtamy preaxial brachydactyly syndrome 777998000
- Temtamy syndrome 719947004
- Tetrasomy 12p syndrome 9527009
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
- Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001
- Toriello Carey syndrome 722477003
- Trisomy 10p 717157006
- Trisomy Xq28 719909009 removed: 2023-02-28
- Urban Rogers Meyer syndrome 716334004
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome 719042007
- Van den Bosch syndrome 733110004
- VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005
- WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome 1187247007
- WARS2-related combined oxidative phosphorylation defect 1260128008
- Weaver Williams syndrome 726670008
- White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome 783703004
- White Sutton syndrome 772127009
- Wiedemann Steiner syndrome 763618001
- Wilson Turner syndrome 719834005
- Witteveen Kolk syndrome 1187122000
- Wolf Hirschhorn syndrome 718226002
- Woodhouse Sakati syndrome 816067005
- X-linked cerebral, cerebellar, coloboma syndrome 770604006
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability 1172697000
- X-linked intellectual disability Abidi type 719018008
- X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome 719155005
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome 719157002
- X-linked intellectual disability Armfield type 719017003
- X-linked intellectual disability Brooks type 725912001
- X-linked intellectual disability Cabezas type 719811001
- X-linked intellectual disability Cantagrel type 719016007
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability due to GRIA3 mutations 783702009
- X-linked intellectual disability Hedera type 726727003
- X-linked intellectual disability hypotonic face syndrome 1156584007
- X-linked intellectual disability Miles Carpenter type 719012009
- X-linked intellectual disability Nascimento type 726732002
- X-linked intellectual disability Pai type 719011002
- X-linked intellectual disability Schimke type 719010001
- X-linked intellectual disability Seemanova type 718897009
- X-linked intellectual disability Shrimpton type 718905007
- X-linked intellectual disability Siderius type 718908009
- X-linked intellectual disability Stevenson type 718909001
- X-linked intellectual disability Stocco Dos Santos type 718910006
- X-linked intellectual disability Stoll type 718911005
- X-linked intellectual disability Turner type 718912003
- X-linked intellectual disability Van Esch type 718914002
- X-linked intellectual disability Wilson type 719009006
- X-linked intellectual disability with acromegaly and hyperactivity syndrome 719826004
- X-linked intellectual disability with ataxia and apraxia syndrome 718845002
- X-linked intellectual disability with cerebellar hypoplasia syndrome 719136005
- X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome 719137001 removed: 2020-07-31
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome 719138006
- X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome 719156006
- X-linked intellectual disability with marfanoid habitus 422437002
- X-linked intellectual disability with plagiocephaly syndrome 719812008
- X-linked intellectual disability with precocious puberty and obesity syndrome 719809005 removed: 2019-07-31
- X-linked intellectual disability with seizure and psoriasis syndrome 719810000
- X-linked intellectual disability Zorick type 718846001 removed: 2019-07-31
- X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome 773587008
- X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004
- X-linked intellectual disability, craniofacioskeletal syndrome 773274001
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome 1237420004
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked intellectual disability, hypotonia, movement disorder syndrome 1254654006
- X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
- X-linked intellectual disability, macrocephaly, macroorchidism syndrome 719825000
- X-linked intellectual disability, short stature, overweight syndrome 1255335006
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome 1197588008
- X-linked neurodegenerative syndrome Hamel type 718847005
- X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome 718896000
- X-linked spasticity, intellectual disability, epilepsy syndrome 725163002
- Xq25 microduplication syndrome 1229872004
- XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007
- Zechi Ceide syndrome 773307006
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