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Isolated microphthalmia-anophthalmia-coloboma

Disease definition

A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

ORPHA:2542

Classification level: Group of disorders
  • Synonym(s):
    • Isolated anophthalmia-microphthalmia syndrome
    • MAC spectrum
    • Microphthalmia-anophthalmia-coloboma spectrum
  • Prevalence: Unknown
  • 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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