Skip to Accessibility Menu Skip to Login Skip to Content Skip to Footer

Microphthalmia-ankyloblepharon-intellectual disability syndrome

What is Microphthalmia-ankyloblepharon-intellectual disability syndrome?

Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.

Other condition names

  • MCOPS4
  • Syndromic microphthalmia type 4

Inheritance type

X-linked recessive

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.