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Colobomatous microphthalmia

Orpha number ORPHA98938
Synonym(s) MAC
Microphthalmia - anophthalmia - coloboma
Microphthalmia with colobomatous cyst
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q11.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia (small eye) associated with ocular coloboma (a hole in one of the structures of the eye resulting from abnormal or incomplete fusion of the optic fissure).


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Detailed information

Clinical genetics review
  • EN (2006)
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