/Cornelia de Lange syndrome 2

Cornelia de Lange syndrome 2

Rare Disease

MONDO:0010370

Also Known As

Cornelia De Lange syndrome type 2Cornelia de Lange syndrome 2Cornelia de Lange syndrome 2, X-linked dominantCornelia de Lange syndrome caused by mutation in SMC1ASMC1A Cornelia de Lange syndromeX-linked Cornelia De Lange syndromeCDLS2Cdls, X-linkedCornelia DE Lange syndrome 2Cornelia De Lange syndrome, X-linked

Definition

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.