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GTR Home > Conditions/Phenotypes > Syndromic microphthalmia type 5

Syndromic microphthalmia type 5

Synonyms
RETINAL DYSTROPHY, EARLY-ONSET, WITH PITUITARY DYSFUNCTION; RETINAL DYSTROPHY, EARLY-ONSET, WITHOUT PITUITARY DYSFUNCTION
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3). [from SNOMEDCT_US]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPHD6, MCOPS5, OTX2
    Summary: orthodenticle homeobox 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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