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GTR Home > Conditions/Phenotypes > Microphthalmia with brain and digit anomalies

Microphthalmia with brain and digit anomalies

Synonyms
Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; Microphthalmia and pituitary anomalies; Microphthalmia syndromic 6; Microphthalmia with brain and digit developmental anomalies

Summary

This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. [from SNOMEDCT_US]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMP2B, BMP2B1, MCOPS6, OFC11, ZYME, BMP4
    Summary: bone morphogenetic protein 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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