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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.
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umls-label:A1703251,
umls-label:A0661357,
umls-label:A1701996,
umls-label:A19586975,
umls-label:A1701999,
umls-label:A11958965,
umls-label:A1702001,
umls-label:A1702013,
umls-label:A12015997,
umls-label:A12030443,
umls-label:A19589131,
umls-label:A16754288,
umls-label:A12001985,
umls-label:A19586976
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