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GTR Home > Conditions/Phenotypes > Oculootoradial syndrome

Oculootoradial syndrome

Synonyms
IVIC syndrome; Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007). [from OMIM]

Available tests

33 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DRRS, HSAL4, IVIC, ZNF797, SALL4
    Summary: spalt like transcription factor 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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