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GTR Home > Conditions/Phenotypes > Microphthalmia/coloboma 11

Microphthalmia/coloboma 11

Summary

Microphthalmia/coloboma-11 (MCOPCB11) is characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Incomplete penetrance as well as intrafamilial and intraindividual phenotypic variability have been observed (Liu et al., 2016; Aubert-Mucca et al., 2021; Jiang et al., 2021; Holt et al., 2022). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C2orf31, HFZ5, MCOPCB11, FZD5
    Summary: frizzled class receptor 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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