Cornelia de Lange syndrome 2

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.

Also known as: Cornelia De Lange syndrome type 2, Cornelia de Lange syndrome 2, Cornelia de Lange syndrome 2, X-linked dominant, Cornelia de Lange syndrome caused by mutation in SMC1A, SMC1A Cornelia de Lange syndrome, X-linked Cornelia De Lange syndrome, CDLS2, Cdls, X-linked

1 clinical trial for this condition and its sub-types, 0 tagged with Cornelia de Lange syndrome 2 itself.