Craniosynostosis 7

Preferred Label : Craniosynostosis 7;

Symbol : CRS7;

CISMeF acronym : CRS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Crs7, digenic; Craniosynostosis 7, digenic;

Inheritance : Autosomal dominant (see qualifier below);

Molecular basis : Caused by mutation in the homolog of Drosophila mothers against decapentaplegic 6 (SMAD6, 602931.0003);

Prefixed ID : #617439;

Détails

Origin ID

617439;

UMLS CUI

C4479496;

Genes related to phenotype
- Smad family member 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Craniosynostosis [HPO term]
- Delayed speech and language development [HPO term]
- Neurodevelopmental delay [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients