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Norrie disease

Disease definition

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

ORPHA:649

  • Synonym(s):
    • Atrophia bulborum hereditaria
    • Episkopi blindness
    • Norrie-Warburg disease
  • Prevalence: Unknown
  • Inheritance: X-linked recessive or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: H35.5
  • OMIM: 310600
  • UMLS: C0266526
  • MeSH: C537849
  • GARD: 7224
  • MedDRA: 10069760

Detailed information

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