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GTR Home > Conditions/Phenotypes > Microphthalmia, isolated, with coloboma 9

Microphthalmia, isolated, with coloboma 9

Summary

MCOPCB9 is characterized by microphthalmia and coloboma (Aldahmesh et al., 2012). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis (Chassaing et al., 2016; Stephen et al., 2018; Singh et al., 2019). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345). For a discussion of genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCOPCB9, MCOPS15, ODZ3, TEN3, TNM3, Ten-m3, ten-3, TENM3
    Summary: teneurin transmembrane protein 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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