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Colobomatous microphthalmia

Synonym(s) MAC
Microphthalmia with colobomatous cyst
Microphthalmia-anophthalmia-coloboma syndrome
Prevalence -
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset -
  • Q11.2
MeSH -
MedDRA -


Disease definition

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

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Detailed information

Summary information
Clinical genetics review
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