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Disease definition

A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.


Classification level: Disorder
  • Synonym(s):
    • Nanophthalmia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q11.2
  • OMIM: 600165  609549  611897  613517  615972
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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