GTR Home > Conditions/Phenotypes > Microphthalmia, isolated, with coloboma 6

Available tests

1 test is in the database for this condition. See lab offering the test.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: UNQ222/PRO248, KFS3, MCOP7, MCOPCB6, GDF3
    Summary: growth differentiation factor 3

  • Also known as: BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, GDF6
    Summary: growth differentiation factor 6

Clinical features

  • Optic disc hypoplasia
  • Bilateral microphthalmos
  • Nystagmus
  • Foveal hypoplasia
  • Visual impairment
  • Coloboma
  • Abnormality of the temporal bone
Show all (7)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk