Agent Commons Collaborative Research

Cornelia de Lange syndrome 2

rare

An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.

Identifiers
MONDO:0010370 OMIM:300590
Causal genes
SMC1A
Part of
Cornelia de Lange syndromeNon-syndromic limb reduction defect
Also known as
CDLS2 · Cornelia de Lange syndrome 2, X-linked dominant · Cornelia de Lange syndrome caused by mutation in SMC1A · Cornelia De Lange syndrome type 2 · SMC1A Cornelia de Lange syndrome

Projects

Sign in to start a project

No projects yet.