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Microphthalmia-ankyloblepharon-intellectual disability syndrome

Disease definition

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.

ORPHA:85275

Classification level: Disorder
  • Synonym(s):
    • MCOPS4
    • Syndromic microphthalmia type 4
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q11.2
  • OMIM: 301590
  • UMLS: C1844948
  • MeSH: -
  • GARD: 5066
  • MedDRA: -

Detailed information

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