| children | - 11p15.4 microduplication syndrome 770794008
- 11q22.2q22.3 microdeletion syndrome 1229882003
- 13q12.3 microdeletion syndrome 773547003
- 14q11.2 microdeletion syndrome 719047001
- 14q24.1q24.3 microdeletion syndrome 773494008
- 14q32 deletion syndrome 879939002
- 15q overgrowth syndrome 771477003
- 16p11.2p12.2 microdeletion syndrome 719576009
- 1p35.2 microdeletion syndrome 1228844002
- 21q22.11q22.12 microdeletion syndrome 787171006
- 2p13.2 microdeletion syndrome 770756008
- 2p15p16.1 microdeletion syndrome 719651000
- 3C syndrome 718556007
- 3q27.3 microdeletion syndrome 770719004
- 5p13 microduplication syndrome 770793002
- 8q22.1 microdeletion syndrome 719664004
- 8q24.3 microdeletion syndrome 1229895008
- 9q21.13 microdeletion syndrome 1229875002
- 9q31.1q31.3 microdeletion syndrome 773493002
- Ablepharon macrostomia syndrome 718575002
- Acromelic frontonasal dysplasia 715427008
- ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 766824003
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000
- Agnathia, holoprosencephaly, situs inversus syndrome 722283003
- AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 774068004
- Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome 720982007
- Aneurysm osteoarthritis syndrome 785808002
- Angelman syndrome 76880004
- Ankyloblepharon filiforme adnatum with cleft palate syndrome 783204009
- Anophthalmia plus syndrome 720496006
- Antley-Bixler syndrome 62964007
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome 763615003
- Arrhinia with choanal atresia and microphthalmia syndrome 720511000
- Ascher's syndrome 28599006
- Asymmetric crying face association 51409009
- Autism spectrum disorder due to AUTS2 deficiency 771512003
- Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004
- Autosomal recessive chorioretinopathy and microcephaly syndrome 770404004
- Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007
- Baraitser Winter cerebrofrontofacial syndrome 1258972007
- Barber-Say syndrome 408537003
- Basel Vanagaite Smirin Yosef syndrome 1187644009
- Beemer Ertbruggen syndrome 717859007
- Binder syndrome 715985008
- Blepharonasofacial malformation syndrome 717913006
- Blepharophimosis syndrome 79833006 removed: 2021-01-31
- Blepharophimosis, intellectual disability syndrome 788584007
- BNAR syndrome 717940006
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome 1169355000
- BSG syndrome 719097002
- Cataract, congenital heart disease, neural tube defect syndrome 726704006
- Cerebellar-facial-dental syndrome 1237475006
- Cerebro-facio-thoracic dysplasia 720635002
- Cerebrofacioarticular syndrome 763353000
- Cerebrooculonasal syndrome 720855003
- Char syndrome 703534001
- CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome 1179408008
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome 720640005
- Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome 719456001
- Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome 1187039001
- Cleft lip retinopathy syndrome 732247000
- Cleft lip sequence 6936002
- Cleft palate with short stature and vertebral anomaly syndrome 719466009
- CODAS syndrome 717772000
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome 720639008
- Combined deficiency of sialidase AND beta galactosidase 35691006
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
- Congenital hydrocephalus, low insertion of umbilicus syndrome 1208346003
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital nonprogressive myopathy with Moebius and Robin sequences 429753001
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency 763318007
- Contracture with ectodermal dysplasia and orofacial cleft syndrome 720746006
- Crane Heise syndrome 715991005
- Cranio-orbito-ocular dysraphia syndrome 51430000 removed: 2020-01-31
- Craniofacial dysplasia osteopenia syndrome 773622005
- Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome 1217229007
- Craniofacial dyssynostosis syndrome 720755009
- Craniofaciofrontodigital syndrome 763320005
- Craniofrontonasal dysplasia 715421009
- Craniosynostosis and intracranial calcification syndrome 720816004
- Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome 720813007
- Craniosynostosis, microretrognathia, severe intellectual disability syndrome 1269224009
- Crouzon syndrome 28861008
- Cryptorchidism, arachnodactyly, intellectual disability syndrome 764950001
- Cyprus facial neuromusculoskeletal syndrome 732261005
- de Barsey syndrome 59252009
- Deafness and intellectual disability Martin Probst type syndrome 721087008
- Deafness craniofacial syndrome 716245003
- Delayed membranous cranial ossification 715524004
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome 721089006
- Desbuquois syndrome 254099008
- Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004
- Diaphragmatic hernia, short bowel, asplenia syndrome 1217373008
- Diencephalic mesencephalic junction dysplasia 766871009
- DNMT3A-related overgrowth syndrome 768843007
- DYRK1A-related intellectual disability syndrome 1179301003
- Dysmorphism, pectus carinatum, joint laxity syndrome 733038005
- Dysmorphism, short stature, deafness, disorder of sex development syndrome 733050004
- 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, hyperhidrosis, cutaneous syndactyly syndrome 1279835008
- Edinburgh malformation syndrome 771178004
- Ehlers-Danlos syndrome musculocontractural type 720860004
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- EVEN-plus syndrome 1260203008
- Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome 782949007
- Facial dysmorphism, cleft palate, loose skin syndrome 763278004
- Facial dysmorphism, conductive hearing loss, heart defect syndrome 763279007
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome 770728003
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
- Faciocardiorenal syndrome 723333000
- Familial omphalocele syndrome with facial dysmorphism 770900000
- Fine Lubinsky syndrome 720955004
- First arch syndrome 15557005
- Flat face, microstomia, ear anomaly syndrome 773750003
- Fountain syndrome 720957007
- Four X syndrome 10567003
- Fragile X syndrome 613003
- Frank-Ter Haar syndrome 720958002
- Fraser syndrome 34169006 removed: 2003-07-31
- Freeman-Sheldon syndrome 52616002
- Fried syndrome 718848000
- Frontonasal dysplasia sequence 86610004
- Fryns macrocephaly 716108004
- Fryns Smeets Thiry syndrome 1208344000
- Gabriele-de Vries syndrome 1186730002
- GAPO syndrome 721843003
- German syndrome 733037000
- Gingival fibromatosis with facial dysmorphism syndrome 719687007
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
- Goldberg Shprintzen megacolon syndrome 717822006
- Goldblatt Wallis syndrome 716096005
- Gollop syndrome 716022002
- Grob's syndrome 50913002
- Hall Riggs syndrome 721008000
- Hallermann Streiff like syndrome 1197057002
- Harrod syndrome 716089008
- Haspeslagh Fryns Muelenaere syndrome 716090004
- Hemifacial hyperplasia strabismus syndrome 733046006
- Hennekam syndrome 234146006
- Hepatic fibrosis, renal cyst, intellectual disability syndrome 771149000
- Holoprosencephaly and postaxial polydactyly syndrome 716091000
- Hypertelorism with microtia and facial clefting syndrome 721836009
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypomandibular faciocranial dysostosis 721845005
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 722284009
- Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome 724281002
- Hypotonia, speech impairment, severe cognitive delay syndrome 763722004
- Ichthyosis cheek eyebrow syndrome 716097001
- Illum syndrome 720514008
- Intellectual disability Buenos Aires type 725906006
- Intellectual disability Wolff type 763745005
- Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome 1217382002
- 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, epilepsy, bulbous nose syndrome 721146009
- Intellectual disability, expressive aphasia, facial dysmorphism syndrome 1197593006
- Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency 782736007
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome 773552008
- 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, obesity, brain malformation, facial dysmorphism syndrome 763350002
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome 774102003
- 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
- Isotretinoin-like syndrome 722006004
- Juberg Marsidi syndrome 721875000
- Kabuki make-up syndrome 313426007
- Kagami Ogata syndrome 770907002
- Kapur Toriello syndrome 722031003
- Kawashima Tsuji syndrome 716112005
- Keppen Lubinsky syndrome 1220589007
- King Denborough syndrome 764957003
- Kleefstra syndrome 724207001
- Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome 1217225001
- Koolen De Vries syndrome 717338006
- Kosaki overgrowth syndrome 1172898008
- Lamb Shaffer syndrome 1251453008
- Larsen-like syndrome B3GAT3 type 763778003
- Leprechaunism syndrome 111307005
- Lethal brain and heart developmental defects syndrome 1229876001
- Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome 1237470001
- Lethal polymalformative syndrome Boissel type 778026007
- Lymphedema, atrial septal defect, facial changes syndrome 721978002
- 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
- Malan overgrowth syndrome 763795006
- Malignant hyperthermia with arthrogryposis and torticollis syndrome 719398004
- Mandibular hypoplasia, deafness, progeroid syndrome 773406003
- Mandibulofacial dysostosis with alopecia 1216943004
- Mandibulofacial dysostosis with microcephaly 711543008
- Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome 773557002
- Marden Walker syndrome 449824004
- Marfanoid habitus with autosomal recessive intellectual disability syndrome 733062000
- Marfanoid habitus, inguinal hernia, advanced bone age syndrome 782780007
- Marshall syndrome 33410002
- Marshall-Smith syndrome 73284007
- McDonough syndrome 715441004
- Megalencephaly capillary malformation 700063005
- Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
- Mehes syndrome 716199000
- Melnick-Fraser syndrome 290006
- Melnick-Needles syndrome 13449007
- Menke Hennekam syndrome 1260095004
- Metopic ridging, ptosis, facial dysmorphism syndrome 1179283004
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Microcephalic osteodysplastic dysplasia Saul Wilson type 723404002
- Microcephalic primordial dwarfism Alazami type 770564004
- Microcephalic primordial dwarfism Dauber type 770565003
- Microcephalic primordial dwarfism Montreal type 765758008
- Microcephalus cleft palate syndrome 719394002
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- Microcephaly with cervical spine fusion anomaly 715462003
- Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome 1167375003
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome 1279889005
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome 721903007
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome 771074000
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Mucopolysaccharidosis-like plus disease 1187113001
- Multiple congenital anomalies, hypotonia, seizures syndrome 785303004
- Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006
- Multiple malformation syndrome with facial-limb defects as major feature 23359005
- Myhre syndrome 699316006
- N syndrome 723410002
- Neonatal Marfan syndrome 763839005
- Neu-Laxova syndrome 77817004
- Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome 1217381009
- Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 1222710008
- Night blindness, skeletal anomalies, dysmorphism syndrome 1237228009
- Nijmegen breakage syndrome-like disorder 766753005
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 783143001
- Oculo-auriculo-vertebral spectrum 1010685005
- Oculo-palato-digital syndrome 205802006
- Oculocerebrodental syndrome 1255268002
- Oculocerebrofacial syndrome Kaufman type 722056009
- Oculodento-osseous dysplasia 254137006
- Oculomaxillofacial dysostosis 763830009
- Okamoto syndrome 722065002
- Osteosclerosis, developmental delay, craniosynostosis syndrome 722117000
- Otocephalic syndrome 48180002
- Otofaciocervical syndrome 763860004
- Overgrowth, macrocephaly, facial dysmorphism syndrome 722122000
- Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome 1169363004
- Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome 1172889005
- Pallister W syndrome 719020006
- Perlman syndrome 722231005
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
- Pettigrew syndrome 719139003
- PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome 1208987006
- Pierpont syndrome 1220594007
- Pilotto syndrome 771013004
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome 1167371007
- Polyvalvular heart disease syndrome 723448007
- Prader-Willi-like syndrome 770680004
- Progeroid and marfanoid aspect, lipodystrophy syndrome 773644000
- Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome 1260130005
- Pseudoprogeria syndrome 733086003
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome 724016008
- Puerto Rican infant hypotonia syndrome 721887007
- PYCR2-related microcephaly, progressive leukoencephalopathy 1237421000
- QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003
- Ramos Arroyo syndrome 723504000
- Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1220597000
- RIDDLE syndrome 783099001
- Robin sequence 4602007
- Roifman syndrome 773404000
- Rozin Hertz Goodman syndrome 715986009
- Sanjad Sakati syndrome 1197148005
- SATB2-associated syndrome 1208488006
- SCARF syndrome 734173003
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome 720853005
- Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002
- Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome 773551001
- Severe intellectual disability, progressive spastic diplegia syndrome 782723007
- Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome 773419004
- Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome 783005002
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 770751003
- Severe X-linked intellectual disability Gustavson type 722213009
- Short stature Brussels type 719213009
- Short stature with webbed neck and congenital heart disease syndrome 721073008
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000
- Short tarsus with absence of lower eyelashes syndrome 721075001
- Shprintzen Goldberg craniosynostosis syndrome 719069008
- Shprintzen Goldberg omphalocele syndrome 716230005
- Simpson-Golabi-Behmel syndrome 439143004
- Solitary median maxillary central incisor syndrome 707609006
- Sonoda syndrome 715987000
- Spondyloepimetaphyseal dysplasia Genevieve type 773303005
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome 782913006
- STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome 1187041000
- Steel syndrome 1197589000
- Stickler syndrome type 3 783097004
- Stimmler syndrome 733072002
- Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004
- Syndromic orbital border hypoplasia 717337001
- Syndromic X-linked intellectual disability type 11 718900002
- Tall stature, intellectual disability, renal anomalies syndrome 1169359006
- Teebi Shaltout syndrome 771265006
- Temple syndrome 778012003
- Temtamy syndrome 719947004
- Thakker Donnai syndrome 773281008
- Thickened earlobe with conductive deafness syndrome 722476007
- Thin ribs, tubular bones, dysmorphism syndrome 783004003
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
- Thomas syndrome 716740009
- TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006
- Toriello Carey syndrome 722477003
- Treacher Collins syndrome 82203000
- Triopia 1285322008
- Trisomy 17p 717049005
- Van den Ende-Gupta syndrome 719845008
- Van der Woude syndrome 79261008
- Velofacioskeletal syndrome 763616002
- Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome 719833004
- WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome 1187247007
- Weaver Williams syndrome 726670008
- Wellesley Carman French syndrome 715988005
- White forelock with malformations syndrome 763619009
- White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome 783703004
- Wiedemann Steiner syndrome 763618001
- Williams syndrome 63247009
- Wilson Turner syndrome 719834005
- Winchester syndrome 254151006
- Witteveen Kolk syndrome 1187122000
- Wolf Hirschhorn syndrome 718226002
- X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome 1167372000
- X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability 1172697000
- 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 due to GRIA3 mutations 783702009
- X-linked intellectual disability hypotonic face syndrome 1156584007
- X-linked intellectual disability Nascimento type 726732002
- X-linked intellectual disability Seemanova type 718897009
- X-linked intellectual disability Siderius type 718908009
- X-linked intellectual disability Stoll type 718911005
- 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, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome 1237420004
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome 1197588008
- Xq25 microduplication syndrome 1229872004
- XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007
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