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Aniridia-intellectual disability syndrome

Disease definition

Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974.

ORPHA:1068

  • Synonym(s):
    • Walker-Dyson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931243
  • MeSH: C536568
  • GARD: 5530
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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