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Syndromic microphthalmia type 5

Disease definition

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

ORPHA:178364

Classification level: Disorder
  • Synonym(s):
    • MCOPS5
    • Syndromic microphthalmia/anophthalmia due to OTX2 mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q11.2
  • OMIM: 610125
  • UMLS: C1864690
  • MeSH: -
  • GARD: 3692
  • MedDRA: -

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