Cornelia de Lange syndrome (DOID:11725)
Alliance: disease page
Synonyms: Brachmann de Lange syndrome; De Lange syndrome
Alt IDs: OMIM:122470, OMIM:300590, OMIM:300882, OMIM:610759, OMIM:614701, ICD10CM:Q87.1, MESH:D003635, NCI:C75016, ORDO:199, UMLS_CUI:C0270972
Definition: A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.