IVIC syndrome

Term ID

DOID:0111381

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. (2)

References

• GARD:269
• MESH:C535544
• MIM:147750
• ORDO:2307
• SNOMEDCT_US_2023_03_01:722019000
• UMLS_CUI:C1327918

Ontology

Human Disease   ( DOID:0111381 )