Term Name: | IVIC syndrome |
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Synonyms: | Instituto Venezolano de Investigaciones Cientificas syndrome, oculo-oto-radial syndrome, Oculootoradial syndrome, OORS, radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia |
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. |
Ontology: | Human Disease [DOID:0111381] ( DOID:0111381 ) |