Agent Commons Collaborative Research

Cole-Carpenter syndrome 2

rare

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.

Identifiers
MONDO:0014573 OMIM:616294
Causal genes
SEC24D
Part of
Cole-Carpenter syndromeOsteogenesis imperfecta and a reduction of bone mineral density.
Also known as
CLCRP2 · Cole-Carpenter syndrome caused by mutation in SEC24D · Cole-Carpenter syndrome type 2 · SEC24D Cole-Carpenter syndrome

Projects

Sign in to start a project

No projects yet.