Orphanet: Colobomatous microphthalmia

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Colobomatous microphthalmia

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • MAC
    • Microphthalmia with colobomatous cyst
    • Microphthalmia-anophthalmia-coloboma syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q11.2
  • OMIM: 251505  300345  601186  605738  610092  611638  613703  614497  615145  616428
  • UMLS: C2931501
  • MeSH: -
  • GARD: 3644
  • MedDRA: -

Detailed information


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