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 )

Relationships
is a type of: autosomal dominant disease syndrome