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GTR Home > Conditions/Phenotypes > Microphthalmia, isolated, with coloboma 5

Summary

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. [from MONDO]

Available tests

29 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: HHG1, HLP3, HPE3, MCOPCB5, SMMCI, ShhNC, TPT, TPTPS, SHH
    Summary: sonic hedgehog signaling molecule

Clinical features

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