Multiple synostoses syndrome 4

Preferred Label : Multiple synostoses syndrome 4;

Symbol : SYNS4;

CISMeF acronym : SYNS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor-6 gene (GDF6, 601147.0010);

Prefixed ID : #617898;

Détails

Origin ID

617898;

UMLS CUI

C4693531;

Genes related to phenotype
- Growth/differentiation factor 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Otosclerosis [HPO term]
- Overlapping toe [HPO term]
- Pes planus [HPO term]
- Tarsal synostosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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