Source:http://linkedlifedata.com/resource/umls/id/C1802395
NCI: 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.,JABL: Congenital muscular hypertrophy, extrapyramidal disorders, mental deficiency, and other variable defects.