Cornelia de Lange syndrome 2

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.

Also known as Cornelia de Lange syndrome 2, 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, X-linked Cornelia De Lange syndrome — per MONDO

Also identified as

• DOID 0080506 per MONDO
• NCIT C75485 per MONDO
• OMIM 300590 per MONDO
• UMLS C1802395 per MONDO