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GTR Home > Conditions/Phenotypes > Microphthalmia, syndromic 1

Microphthalmia, syndromic 1

Synonyms
ANOP1; Microphthalmia syndromic 4
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. [from ORDO]

Available tests

45 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANOP2, MAA2, MCOPS2, BCOR
    Summary: BCL6 corepressor

  • Also known as: ARD1, ARD1A, ARD1P, DXS707, LZMS, MAA, MCOPS1, NATD, OGDNS, TE2, hARD1, NAA10
    Summary: N-alpha-acetyltransferase 10, NatA catalytic subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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