IVIC syndrome
Ontology Term:
Status:
Live
Synonym:
Instituto Venezolano de Investigaciones Cientificas syndrome
OORS
Oculootoradial syndrome
oculo-oto-radial syndrome
radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
OORS
Oculootoradial syndrome
oculo-oto-radial syndrome
radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Type:
Mapping to OMIM ID:
Comparative Info:
Learn more about this disease from studies in other model systems at the 
WormBase ID:
DOID:0111381
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.
Child:
Associations based on experimental data:
Disease relevant gene:
