ORPHA:228407

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

Synonyms: TMCO1 defect syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cerebrofaciothoracic dysplasia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome	TMCO1 defect syndrome
fr	Syndrome de dysmorphie craniofaciale-anomalies squelettiques-déficience intellectuelle	Syndrome de déficit en TMCO1
de	Kaniofaziale Dysmorphie-Skelettanomalien-Intellektuelle Beeinträchtigung-Syndrom	TMCO1-Defekt-Syndrom
es	Síndrome de dismorfia craneofacial-anomalías esqueléticas-discapacidad intelectual	Síndrome por defecto de TMCO1
it	Sindrome dismorfismi craniofacciali-anomalie scheletriche-deficit cognitivo	Sindrome da deficit di TMCO1
nl	Craniofaciale dysmorfie - skeletale anomalieën - intellectuele achterstand-syndroom	TMCO1-defectsyndroom
pt	Síndrome de dismorfia craniofacial-anomalias esqueléticas-perturbação do desenvolvimento intelectual	Síndrome de deficiência TMCO1
pl	Zespół dysmorfii czaszkowo-twarzowej, anomalii szkieletu i niepełnosprawności intelektulanej	Zespół defektu TMCO1
cs	Syndrom zahrnující kraniofaciální dysmorfismus, anomálie skeletu a mentální retardaci	Syndrom poruchy TMCO1
uk	Синдром черепно-лицьового дизморфізму-скелетних аномалій-інтелектуальної недостатності	Синдром дефекту TMCO1
zh	颅面畸形-骨骼异常-智力障碍综合征	TMCO1基因缺陷综合征
tr	Kraniofasiyal dismorfizm-iskelet anomalileri-zihinsel yetersizlik sendromu	TMCO1 defekt sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	213980	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Not placed in any Orphanet classification in this release.

No children.

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.