ORPHA:611327
Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Synonyms: Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability | Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism |
| fr | Anomalies congénitales multiples-déficience intellectuelle d'origine génétique | |
| de | Genetisch bedingte multiple kongenitale Anomalien/Dysmorphie-Syndrome mit Intelligenzminderung | Genetisch bedingte multiple kongenitale Anomalien und Intelligenzminderung mit oder ohne assoziierte Dysmorphien |
| es | Anomalías congénitas múltiples genéticas/síndrome dismórfico-discapacidad intelectual | Anomalías congénitas múltiples genéticas-discapacidad intelectual con o sin dismorfia |
| it | Sindrome genetica da anomalie/dismorfismi congeniti multipli e disabilità intellettiva | Sindrome genetica da anomalie congenite multiple e disabilità intellettiva con o senza dismorfismi |
| nl | Genetische multipele congenitale anomalieën/dysmorfie-syndroom - intellectuele achterstand | Genetische multipele congenitale anomalieën - intellectuele achterstand met of zonder dysmorfie |
| pt | Anomalias congénitas múltiplas genéticas/síndrome dismórfico-perturbação do desenvolvimento intelectual | Anomalias congénitas múltiplas de etiologia genética-perturbação do desenvolvimento intelectual com ou sem dismorfia |
| pl | Zespół dysmorficzny/licznych genetycznych wad wrodzonych - niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující genetické mnohočetné vrozené anomálie/dysmorfii a mentální retardaci | = en |
| uk | Генетично обумовлені множинні вроджені аномалії/дисморфічний синдром з інтелектуальною недостатністю | Генетичні множинні вроджені аномалії - розумова відсталість з дисморфізмом або без нього |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680226 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183533Genetic multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:183763Rare genetic syndromic intellectual disability
rare genetic diseases
Children (735):
- ORPHA:68769510p13-p14 deletion syndrome
- ORPHA:30030511p15.4 microduplication syndrome
- ORPHA:44400211q22.2q22.3 microdeletion syndrome
- ORPHA:9406312q14 microdeletion syndrome
- ORPHA:71781212q24.31 microdeletion syndrome
- ORPHA:41203513q12.3 microdeletion syndrome
- ORPHA:40193514q24.1q24.3 microdeletion syndrome
- ORPHA:31458515q overgrowth syndrome
- ORPHA:19931815q13.3 microdeletion syndrome
- ORPHA:48540516p12.1p12.3 triplication syndrome
- ORPHA:72762016p13.11p11.2 triplication/16p11.2 duplication syndrome
- ORPHA:65854016q22 deletion syndrome
- ORPHA:171317p11.2 microduplication syndrome
- ORPHA:21738517p13.3 microduplication syndrome
- ORPHA:13947417q11.2 microduplication syndrome
- ORPHA:21734017q21.31 microduplication syndrome
- ORPHA:52996217q24.2 microdeletion syndrome
- ORPHA:35700119p13.13 microdeletion syndrome
- ORPHA:44798019p13.3 microduplication syndrome
- ORPHA:21734619q13.11 microdeletion syndrome
- ORPHA:4019861p31p32 microdeletion syndrome
- ORPHA:4562981p35.2 microdeletion syndrome
- ORPHA:31378120p13 microdeletion syndrome
- ORPHA:44405120q11.2 microdeletion syndrome
- ORPHA:36365920q11.2 microduplication syndrome
- ORPHA:26132321q22.11q22.12 microdeletion syndrome
- ORPHA:56722q11.2 deletion syndrome
- ORPHA:3636802p13.2 microdeletion syndrome
- ORPHA:7178302p14p15 microdeletion syndrome
- ORPHA:6847422q13 microdeletion syndrome
- ORPHA:2284022q23.1 microdeletion syndrome
- ORPHA:3139472q23.1 microduplication syndrome
- ORPHA:2510192q32q33 deletion syndrome
- ORPHA:10012q37 microdeletion syndrome
- ORPHA:73C syndrome
- ORPHA:2938433MC syndrome
- ORPHA:6956113q27.1 microdeletion syndrome
- ORPHA:3976953q27.3 microdeletion syndrome
- ORPHA:9626348,XXXY syndrome
- ORPHA:1048,XXYY syndrome
- ORPHA:9932948,XYYY syndrome
- ORPHA:9626449,XXXXY syndrome
- ORPHA:5024374q25 proximal deletion syndrome
- ORPHA:3298025p13 microduplication syndrome
- ORPHA:2615845q22 microdeletion syndrome
- ORPHA:3140347p22.1 microduplication syndrome
- ORPHA:2841608q21.11 microdeletion syndrome
- ORPHA:5084888q24.3 microdeletion syndrome
- ORPHA:3243139p13 microdeletion syndrome
- ORPHA:4019239q31.1q31.3 microdeletion syndrome
- ORPHA:4958189q33.3q34.11 microdeletion syndrome
- ORPHA:423655ARX-related encephalopathy-brain malformation spectrum
- ORPHA:915Aarskog-Scott syndrome
- ORPHA:920Ablepharon macrostomia syndrome
- ORPHA:36Acrocallosal syndrome
- ORPHA:2008Acrocardiofacial syndrome
- ORPHA:950Acrodysostosis
- ORPHA:1786Acrofacial dysostosis, Catania type
- ORPHA:1788Acrofacial dysostosis, Rodríguez type
- ORPHA:1827Acromelic frontonasal dysplasia
- ORPHA:974Adams-Oliver syndrome
- ORPHA:83617Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:990Agnathia-holoprosencephaly-situs inversus syndrome
- ORPHA:85274Ahmad syndrome
- ORPHA:694946Alazami-Yuan syndrome
- ORPHA:1005Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:1014Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- ORPHA:72Angelman syndrome
- ORPHA:1068Aniridia-intellectual disability syndrome
- ORPHA:1067Aniridia-ptosis-intellectual disability-familial obesity syndrome
- ORPHA:1064Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome
- ORPHA:562559Anterior maxillary protrusion-strabismus-intellectual disability syndrome
- ORPHA:83Antley-Bixler syndrome
- ORPHA:1110Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- ORPHA:87Apert syndrome
- ORPHA:324540Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- ORPHA:1129Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:1130Arachnodactyly-intellectual disability-dysmorphism syndrome
- ORPHA:1184Ataxia-photosensitivity-short stature syndrome
- ORPHA:56304Atelosteogenesis type II
- ORPHA:56305Atelosteogenesis type III
- ORPHA:1193Atkin-Flaitz syndrome
- ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency
- ORPHA:642763Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
- ORPHA:1300Autosomal dominant popliteal pterygium syndrome
- ORPHA:2514Autosomal dominant primary microcephaly
- ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome
- ORPHA:2776Autosomal recessive distal osteolysis syndrome
- ORPHA:2512Autosomal recessive primary microcephaly
- ORPHA:1272Aymé-Gripp syndrome
- ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:686482BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
- ORPHA:85284BRESEK syndrome
- ORPHA:352577Bainbridge-Ropers syndrome
- ORPHA:109Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:1239Behr syndrome
- ORPHA:141333Biemond syndrome type 2
- ORPHA:1252Blepharonasofacial malformation syndrome
- ORPHA:293642Blepharophimosis-intellectual disability syndrome
- ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:97297Bohring-Opitz syndrome
- ORPHA:1261Bonnemann-Meinecke-Reich syndrome
- ORPHA:127Borjeson-Forssman-Lehmann syndrome
- ORPHA:69737Bosley-Salih-Alorainy syndrome
- ORPHA:1270Bowen-Conradi syndrome
- ORPHA:1277Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- ORPHA:1246Brachydactyly-nystagmus-cerebellar ataxia syndrome
- ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome
- ORPHA:1292Brachymorphism-onychodysplasia-dysphalangism syndrome
- ORPHA:664410Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
- ORPHA:75389Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- ORPHA:50815Branchiogenic deafness syndrome
- ORPHA:1299Branchioskeletogenital syndrome
- ORPHA:1308C syndrome
- ORPHA:83472CAMOS syndrome
- ORPHA:600668CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
- ORPHA:646278CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
- ORPHA:692193CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:599082CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
- ORPHA:653712CHD4-related neurodevelopmental disorder
- ORPHA:642675CHD8 overgrowth syndrome
- ORPHA:3474CHIME syndrome
- ORPHA:1458CODAS syndrome
- ORPHA:263508COG1-CDG
- ORPHA:79333COG7-CDG
- ORPHA:363611CTCF-related neurodevelopmental disorder
- ORPHA:1318Campomelia, Cumming type
- ORPHA:140Campomelic dysplasia
- ORPHA:488434Camptodactyly syndrome, Guadalajara type 3
- ORPHA:1321Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
- ORPHA:1517Cantú syndrome
- ORPHA:228410Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- ORPHA:2872Cardiocranial syndrome, Pfeiffer type
- ORPHA:1340Cardiofaciocutaneous syndrome
- ORPHA:1358Carey-Fineman-Ziter syndrome
- ORPHA:65759Carpenter syndrome
- ORPHA:699835Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
- ORPHA:1383Cataract-deafness-hypogonadism syndrome
- ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome
- ORPHA:1123Caudal appendage-deafness syndrome
- ORPHA:603448Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
- ORPHA:444072Cerebellar-facial-dental syndrome
- ORPHA:495875Cerebello-oculo-facio-genital syndrome
- ORPHA:1393Cerebrocostomandibular syndrome
- ORPHA:314679Cerebrofacioarticular syndrome
- ORPHA:1394Cerebrofaciothoracic dysplasia
- ORPHA:66625Cerebrooculonasal syndrome
- ORPHA:46627Char syndrome
- ORPHA:589856Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- ORPHA:85278Christianson syndrome
- ORPHA:600731Clark-Baraitser syndrome
- ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome
- ORPHA:652519Cleft palate-congenital heart defect-intellectual disability syndrome
- ORPHA:2015Cleft palate-short stature-vertebral anomalies syndrome
- ORPHA:191Cockayne syndrome
- ORPHA:192Coffin-Lowry syndrome
- ORPHA:1465Coffin-Siris syndrome
- ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:193Cohen syndrome
- ORPHA:363741Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- ORPHA:685017Combined immunodeficiency due to TBX1 mutation
- ORPHA:221139Combined immunodeficiency with facio-oculo-skeletal anomalies
- ORPHA:664923Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
- ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:729781Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome
- ORPHA:528Congenital generalized lipodystrophy
- ORPHA:708019Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome
- ORPHA:1355Congenital heart defect-round face-developmental delay syndrome
- ORPHA:562528Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- ORPHA:697356Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
- ORPHA:420794Cono-spondylar dysplasia
- ORPHA:436003Contractures-developmental delay-Pierre Robin syndrome
- ORPHA:1484Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- ORPHA:1488Cooper-Jabs syndrome
- ORPHA:199Cornelia de Lange syndrome
- ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- ORPHA:459074Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- ORPHA:1496Corpus callosum agenesis-neuronopathy syndrome
- ORPHA:1389Cortical blindness-intellectual disability-polydactyly syndrome
- ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- ORPHA:3071Costello syndrome
- ORPHA:1512Crane-Heise syndrome
- ORPHA:1514Craniodigital-intellectual disability syndrome
- ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- ORPHA:363705Craniofaciofrontodigital syndrome
- ORPHA:1520Craniofrontonasal dysplasia
- ORPHA:565858Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- ORPHA:1548Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:1553Curry-Jones syndrome
- ORPHA:2135Cutaneous mastocytosis-deafness-microtia syndrome
- ORPHA:464306DYRK1A-related intellectual disability syndrome
- ORPHA:2962De Barsy syndrome
- ORPHA:3224Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:85321Deafness-intellectual disability syndrome, Martin-Probst type
… and 535 more in the JSON record.
Codes that Orphanet moved or referred to this one:
- ORPHA:330197OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611327
- This record as JSON: /data/d/611327.json