IVIC syndrome (DOID:0111381)
Alliance: disease page
Synonyms: Instituto Venezolano de Investigaciones Cientificas syndrome; oculo-oto-radial syndrome; Oculootoradial syndrome; OORS; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Alt IDs: OMIM:147750, MESH:C535544, ORDO:2307, UMLS_CUI:C1327918
Definition: A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2.