Syndromic microphthalmia type 5

What is Syndromic microphthalmia type 5?

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.

Other condition names

  • MCOPS5
  • Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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