| Term Name: | IVIC syndrome |
|---|---|
| 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 ) |