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Isolated microphthalmia-anophthalmia-coloboma

Disease definition

A disorder that describes, respectively, the absence of an eye and the presence of a small eye within the orbit.


Classification level: Group of disorders
  • Synonym(s):
    • Isolated anophthalmia-microphthalmia syndrome
    • MAC spectrum
    • Microphthalmia-anophthalmia-coloboma spectrum
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q11.0  Q11.1  Q11.2
  • OMIM: 156850  251600  610093  611038  613094  613517  613704  615113
  • UMLS: -
  • MeSH: -
  • GARD: 12085
  • MedDRA: -

Detailed information


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