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GTR Home > Conditions/Phenotypes > Oculoauricular syndrome

Oculoauricular syndrome

Synonyms
MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR; SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: H6, NKX5-3, HMX1
    Summary: H6 family homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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