| children | - 11p15 deletion syndrome 880078001
- 12q15 deletion syndrome 880081006
- 12q24.31-q24.32 deletion syndrome 880086001
- 14q partial distal trisomy syndrome 20348002
- 14q partial proximal trisomy syndrome 83585001
- 14q11.2 microduplication syndrome 771341006
- 14q12 microdeletion syndrome 719574007
- 15q14 microdeletion syndrome 719575008
- 15q24 microdeletion 699308002
- 16p12.2 microdeletion syndrome 768471006
- 16p13.11 microdeletion syndrome 719577000
- 16p13.3 microduplication syndrome 733473000
- 17q12 microdeletion syndrome 733519008
- 17q23.1q23.2 microdeletion syndrome 719584008
- 17q24.2 microdeletion syndrome 1229873009
- 19p13.3 microduplication syndrome 1229883008
- 1p31p32 microdeletion syndrome 766766005
- 1q21.1 microduplication syndrome 771337007
- 1q41q42 microdeletion syndrome 716515000
- 1q44 microdeletion syndrome 719649004
- 20p partial trisomy syndrome 111311004
- 20p12.3 microdeletion syndrome 719650004
- 20p13 microdeletion syndrome 773346008
- 20q11.2 microduplication syndrome 763061004
- 20q13.33 microdeletion syndrome 733520002
- 22q11.2 deletion syndrome 767263007
- 22q11.2 duplication syndrome 699311001
- 2p21 microdeletion syndrome 719652007
- 2p21 microdeletion syndrome without cystinuria 770754006
- 2q23.1 microdeletion syndrome 719657001
- 2q31.1 microdeletion syndrome 716387004
- 2q32q33 microdeletion syndrome 719659003
- 2q33.1 microdeletion syndrome 763062006
- 3q13 microdeletion syndrome 726705007
- 3q26q27 microdeletion syndrome 778000002
- 3q29 microdeletion syndrome 716456000
- 46,XX disorder of sex development with anorectal anomalies syndrome 733622000
- 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- 48,XYYY syndrome 733625003
- 49,XXXYY syndrome 770908007
- 49,XYYYY syndrome 734028007
- 5p partial monosomy syndrome 70173007
- 5q14.3 microdeletion syndrome 719661007
- 5q22.2 deletion syndrome 890124000
- 5q31.3 microdeletion syndrome 768555009
- 5q35 microduplication syndrome 719665003
- 6p22 microdeletion syndrome 719662000
- 7p22.1 microduplication syndrome 764703002
- 9q33.3q34.11 microdeletion syndrome 1228886008
- Abruzzo Erickson syndrome 718574003
- Ackerman syndrome 722280000
- Acrodysplasia scoliosis 773773006
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Agenesis of corpus callosum and abnormal genitalia syndrome 763797003
- Aglossia-adactyly syndrome 205817005
- Alstrom syndrome 63702009
- Aniridia, ptosis, intellectual disability, familial obesity syndrome 720987001
- Aniridia, renal agenesis, psychomotor retardation syndrome 733116005
- Ankyloblepharon filiforme adnatum with imperforate anus syndrome 773770009
- Anonychia with microcephaly syndrome 720494009
- Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome 720495005
- Anterior maxillary protrusion, strabismus, intellectual disability syndrome 1222706005
- Aplasia cutis with myopia syndrome 720499004
- Arteriohepatic dysplasia 31742004
- Arthrogryposis with renal dysfunction and cholestasis syndrome 720513002
- Ataxia, photosensitivity, short stature syndrome 773769008
- Atypical Norrie disease due to monosomy Xp11.3 733626002
- Auricular abnormality, cleft lip, ocular abnormality syndrome 725149008
- Autosomal dominant deafness with onychodystrophy syndrome 1208614008
- Axial mesodermal dysplasia spectrum 765755006
- Bamforth Lazarus syndrome 722375007
- Bardet-Biedl syndrome 5619004
- Biemond syndrome type 2 717887003
- Biemond's syndrome 205828009
- Bilateral microtia with deafness and cleft palate syndrome 717909004
- Boder syndrome 716180009
- Borjeson-Forssman-Lehmann syndrome 21634003
- Bosley Salih Alorainy syndrome 720567008
- Braddock syndrome 720575002
- Brain calcification Rajab type 720576001
- Branchial dysplasia, intellectual disability, inguinal hernia syndrome 732961003
- Branchiogenic deafness syndrome 717944002
- Branchiootic syndrome 764810000
- BRESEK syndrome 717945001
- C syndrome 715409005
- Cardiocranial syndrome Pfeiffer type 720606005
- Cardiospondylocarpofacial syndrome 720612000
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Cerebro-costo-mandibular syndrome 51780007
- Cervical hypertrichosis and peripheral neuropathy syndrome 720852000
- CHARGE association 47535005
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
- Cholestasis with pigmentary retinopathy and cleft palate syndrome 720636001
- Chondrodysplasia with disorder of sex development syndrome 720851007
- Choroideremia with deafness and obesity syndrome 717761005
- Christianson syndrome 702354007
- Chromosome Xp22.3 microdeletion syndrome 726733007
- Chromosome Xq27.3q28 duplication syndrome 718881004
- CK syndrome 773329005
- Cleft palate with stapes fixation and oligodontia syndrome 719468005
- Cleft palate, large ears, small head syndrome 763130006
- Coffin-Siris syndrome 10007009
- Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome 764455002
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome 764942005
- Conductive deafness, ptosis, skeletal anomalies syndrome 763213001
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital cataract with hypertrichosis and intellectual disability syndrome 722379001
- Congenital deafness with labyrinthine aplasia, microtia and microdontia 702360007
- Congenital generalized hypercontractile muscle stiffness syndrome 1174000008
- Congenital intrauterine infection-like syndrome 722390006
- Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome 1177173001
- Congenital vertebral, cardiac, renal anomalies syndrome 1260142000
- Cooper Jabs syndrome 720748007
- Coxoauricular syndrome 732248005
- Craniofacial ulnar renal syndrome 720756005
- Craniolenticulosutural dysplasia 725100001
- Craniosynostosis and dental anomalies syndrome 773332008
- Craniosynostosis, anal anomaly, porokeratosis syndrome 720812002
- Crome syndrome 722381004
- Cross syndrome 17827007
- Deaf blind hypopigmentation syndrome Yemenite type 721084001
- Deafness, vitiligo, achalasia syndrome 733069009
- Developmental malformation, deafness, dystonia syndrome 721092005
- Diaphanospondylodysostosis 721094006
- Diaphragmatic defect, limb deficiency, skull defect syndrome 721095007
- Diastrophic dysplasia 58561002
- Didymosis aplasticosebacea 774209001
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome 782737003
- Disorder of sex development with intellectual disability syndrome 719450007
- Distal 22q11.2 microdeletion syndrome 734029004
- Distal 22q11.2 microduplication syndrome 764524005
- Distal monosomy 10q syndrome 718687003
- Distal monosomy 13q syndrome 763527007
- Distal monosomy 14q syndrome 770410004
- Distal monosomy 15q 766050000
- Distal monosomy 1q syndrome 717633007
- Distal monosomy 20q 783164002 removed: 2022-06-30
- Distal monosomy 7q36 syndrome 763529005
- Distal trisomy 16q 764459008
- Distal trisomy 1p36 766053003
- Distal trisomy 22q syndrome 764512003
- Distal trisomy 5q syndrome 763274002
- Dobrow syndrome 782940006
- DOORS syndrome 719800009
- Double uterus, hemivagina, renal agenesis syndrome 722431007
- Double Y syndrome 50749006
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Duhamel's syndrome 49096008
- Dyschondrosteosis and nephritis syndrome 722433005
- Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Epibulbar lipodermoid, preauricular appendage, polythelia syndrome 1208480004
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome 771179007
- Fallot complex with intellectual disability and growth delay syndrome 723336008
- Familial caudal dysgenesis 722493007
- Fatty acyl-CoA reductase 1 deficiency 1237619001
- FLOTCH syndrome 774065001
- Focal dermal hypoplasia 205573006
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome 765089003
- Galloway Mowat syndrome 721297008
- GEMSS syndrome 722450007
- Genitopalatocardiac syndrome 773749003
- Genitopatellar syndrome 702367005
- Gillespie syndrome 253176002
- Goldblatt syndrome 717823001
- Goldenhar syndrome 205418005
- Gomez Lopez Hernandez syndrome 722451006
- Haim Munk syndrome 719973009
- Hair defect with photosensitivity and intellectual disability syndrome 721007005
- Hanhart's syndrome 35031005
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- HIVEP2-related intellectual disability 765434008
- Holzgreve syndrome 783159001
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hydrocephalus, blue sclera, nephropathy syndrome 773280009
- Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome 721229003
- Hydrocephalus, tall stature, joint laxity syndrome 732926009
- Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome 1237349008
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome 773667003
- Hypogonadism with anosmia 93559003
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome 733097003
- Imperforate oropharynx, costovertebral anomalies syndrome 771185000
- Intellectual disability Birk-Barel type 764861005
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Johanson-Blizzard syndrome 75979009
- Johnson neuroectodermal syndrome 721584005
- Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome 773626008
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005
- Kousseff syndrome 726083008
- Kundrat's syndrome 30278004
- Laurence-Moon syndrome 232059000
- Lethal hydranencephaly, diaphragmatic hernia syndrome 1172705006
- Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007
- LIG4 syndrome 724177005
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lowe Kohn Cohen syndrome 766249007
- Lowry MacLean syndrome 721974000
- Lymphedema hypoparathyroidism syndrome 721083007
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- MACS syndrome 723367005
- Male emopamil-binding protein disorder with neurological defect 782739000
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Manitoba oculotrichoanal syndrome 703539006
- MARCH syndrome 1169358003
- Marfanoid syndrome De Silva type 732262003
- Matthew Wood syndrome 722458000
- McCune Albright syndrome 726029005
- McKusick Kaufman syndrome 702407009
- Meacham syndrome 722461004
- Megacystis, microcolon, hypoperistalsis syndrome 253781004
- Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome 722036008
- Megalocornea with intellectual disability syndrome 733522005
- MEHMO syndrome 722037004
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephalic primordial dwarfism Toriello type 715482004
- Microcephalus cardiomyopathy syndrome 719380003
- Microcephalus with cardiac defect and lung malsegmentation syndrome 719379001
- Microcephalus, brain defect, spasticity, hypernatremia syndrome 770655004
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome 733472005
- Microcephalus, lymphedema, chorioretinopathy syndrome 733604003
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome 773305003
- Microcephaly, seizure, intellectual disability, heart disease syndrome 723304001
- Microcephaly, thin corpus callosum, intellectual disability syndrome 770721009
- Microduplication Xp11.22p11.23 syndrome 721881008
- Microphthalmia, microtia, fetal akinesia syndrome 1230344000
- Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome 724139004
- MIRAGE syndrome 1234831009
- Monosomy 13q14 syndrome 770566002
- Monosomy 13q34 syndrome 766716004
- Monosomy 22 syndrome 787411009
- Moore-Federman syndrome 72913007
- Mosaic trisomy 1 syndrome 829974003
- Mosaic trisomy 12 syndrome 764463001
- Mosaic trisomy 14 syndrome 764466009
- Mosaic trisomy 15 syndrome 764619001
- Mosaic trisomy 16 syndrome 764621006
- Mosaic trisomy 17 syndrome 764622004
- Mosaic trisomy 2 syndrome 764623009
- Mosaic trisomy 20 syndrome 764624003
- Mosaic trisomy 22 syndrome 764625002
- Mosaic trisomy 3 syndrome 764627005
- Mosaic trisomy 5 syndrome 764629008
- Mosaic trisomy 8 syndrome 717335009
- Mulibrey nanism syndrome 81604003
- Multiple malformation syndrome due to non-infectious environmental agents 57544002
- Multiple malformation syndrome with early overgrowth 48637007
- Multiple malformation syndrome with facial defects as major feature 65094009
- Multiple malformation syndrome with limb defect as major feature 41443008
- Multiple malformation syndrome with senile-like appearance 12674005
- Multiple malformation syndrome with unusual brain and/or neuromuscular findings 64162006
- Multiple malformation syndrome, moderate short stature, facial 77701002
- Multiple malformation syndrome, small stature, without skeletal dysplasia 41483000
- Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
- Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome 773584001
- Nasopalpebral lipoma coloboma syndrome 723411003
- Native American myopathy 723439002
- NEK9-related lethal skeletal dysplasia 1179299005
- Nephrosis, deafness, urinary tract, digital malformation syndrome 724092009
- Neuroectodermal melanolysosomal disease 724091002
- Non-distal monosomy 12q 782694003
- NPHP3-related Meckel-like syndrome 773737004
- Ochoa syndrome 236533008
- Oculoauricular syndrome Schorderet type 763815000
- Oculofaciocardiodental syndrome 699300009
- Oculopalatocerebral syndrome 722055008
- Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome 782945001
- Osteochondrodysplasia syndrome 105985007
- Pachygyria, intellectual disability, epilepsy syndrome 763861000
- PAGOD syndrome 722132007
- Pancreatic agenesis, holoprosencephaly syndrome 1222660008
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome 773497001
- Paternal 20q13.2q13.3 microdeletion syndrome 724070005
- Pectus excavatum, macrocephaly, dysplastic nails syndrome 763863002
- PELVIS syndrome 725138002
- Pentalogy of Cantrell 281587000
- Pericardial and diaphragmatic defect syndrome 724068001
- Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome 715506001
- Pili torti with developmental delay and neurological abnormality syndrome 716194005
- Poikiloderma, alopecia, retrognathism, cleft palate syndrome 771186004
- Polysyndactyly and cardiac malformation syndrome 724066002
- Pontine tegmental cap dysplasia 782884005
- Porencephaly, cerebellar hypoplasia, internal malformations syndrome 763821001
- Porencephaly, microcephaly, bilateral congenital cataract syndrome 773627004
- Port-wine nevi, mega cisterna magna, hydrocephalus syndrome 783701002
- Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome 763866005
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome 724064004
- Potocki-Shaffer syndrome 702346005
- Prader-Willi syndrome 89392001
- Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness 236529001
- Pseudoleprechaunism syndrome Patterson type 771262009
- RAB18 deficiency 772225005
- Reardon Hall Slaney syndrome 715471007
- Renal caliceal diverticuli and deafness syndrome 782942003
- Renal hepatic pancreatic dysplasia 763891005
- RERE-related neurodevelopmental syndrome 1172624000
- RHYNS syndrome 723999009
- Richieri Costa-da Silva syndrome 782941005
- Ring chromosome 1 syndrome 47017007
- Ring chromosome 10 syndrome 86997002
- Ring chromosome 11 syndrome 111310003
- Ring chromosome 12 syndrome 770595006
- Ring chromosome 13 syndrome 726723004
- Ring chromosome 14 syndrome 702345009
- Ring chromosome 15 syndrome 763405000
- Ring chromosome 16 syndrome 763406004
- Ring chromosome 17 syndrome 778043005
- Ring chromosome 18 syndrome 88154004
- Ring chromosome 19 syndrome 765484001
- Ring chromosome 2 syndrome 765485000
- Ring chromosome 20 syndrome 23686004
- Ring chromosome 21 syndrome 31325007
- Ring chromosome 22 syndrome 13555004
- Ring chromosome 3 syndrome 765486004
- Ring chromosome 4 syndrome 81678004
- Ring chromosome 5 syndrome 765487008
- Ring chromosome 6 syndrome 765488003
- Ring chromosome 7 syndrome 765489006
- Ring chromosome 8 syndrome 715983001
- Ring chromosome 9 syndrome 60650002
- Ring chromosome Y syndrome 763407008
- RNF13-related severe early-onset epileptic encephalopathy 1222659003
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome 774150004
- Scalp defect postaxial polydactyly syndrome 726629006
- SCALP syndrome 774208009
- Schwartz-Jampel syndrome 29145002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- Seemanova Lesny syndrome 715464002
- Septo-optic dysplasia sequence 7611002
- SERKAL syndrome 723720008
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome 773400009
- Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome 1187212004
- Severe myopia, generalized joint laxity, short stature syndrome 1217372003
- Severe oculo-renal-cerebellar syndrome 1208341008
- Short stature, advanced bone age, early-onset osteoarthritis syndrome 1197586007
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Short stature, wormian bones, dextrocardia syndrome 763631006
- Shprintzen syndrome 83092002 removed: 2018-07-31
- Siegler Brewer Carey syndrome 721076000
- Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome 1177175008
- Smith-Magenis syndrome 401315004
- Spigelian hernia with cryptorchidism syndrome 773623000
- Spina bifida and hypospadias syndrome 763889002
- Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome 723612001
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- Steroid dehydrogenase deficiency and dental anomaly syndrome 723583009
- Stickler syndrome 78675000
- Stromme syndrome 1187120008
- Subaortic stenosis and short stature syndrome 783096008
- Symptomatic form of Coffin-Lowry syndrome in female carrier 1237577000
- Syndromic X-linked intellectual disability due to JARID1C mutation 719161008
- TARP syndrome 725911008
- Taurodontia with absent teeth and sparse hair syndrome 719945007
- TBCK-related intellectual disability syndrome 1172628002
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- Tetraamelia with multiple malformation syndrome 716249009
- Tetrasomy 12p syndrome 9527009
- Tetrasomy 21 764690001
- Tetrasomy 5p syndrome 766755003
- Thoraco-abdominal enteric duplication 733628001
- Thymic, renal, anal, lung dysplasia syndrome 723555007
- Timothy syndrome 1230096008
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007
- Trigonocephaly, short stature, developmental delay syndrome 733066002
- Trisomy 1q syndrome 768927001
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome 719042007
- VACTEL syndrome 6839008
- VACTERL syndrome with hydrocephalus 719043002
- Van den Bosch syndrome 733110004
- VATER association 27742002
- Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome 431395004
- Vici syndrome 719824001
- Waardenburg's syndrome 47434006
- X-linked cerebral, cerebellar, coloboma syndrome 770604006
- X-linked cleft palate and ankyloglossia 766761000
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked intellectual disability Cabezas type 719811001
- X-linked intellectual disability Stocco Dos Santos type 718910006
- X-linked intellectual disability, craniofacioskeletal syndrome 773274001
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked intellectual disability, short stature, overweight syndrome 1255335006
- XK aprosencephaly syndrome 1162839003
- Xq12-q13.3 duplication syndrome 764711007
- XY type gonadal dysgenesis with associated anomalies syndrome 733605002
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