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GTR Home > Conditions/Phenotypes > X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

Synonyms
COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, AND PSYCHOMOTOR RETARDATION; MAINE MICROPHTHALMOS; Microphthalmia, syndromic 13
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. [from ORDO]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMG-2a, HMG-4, HMG2A, HMG4, HMGB3
    Summary: high mobility group box 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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