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Norrie disease [Supplementary Concept]

An X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with PSYCHOSIS, and about one-third of patients develop SENSORINEURAL HEARING LOSS in the second decade. Growth failure and SEIZURES may also occur. Mutations in the NDP gene have been identified. OMIM: 310600

Date introduced: August 25, 2010

MeSH Unique ID: C537849

Heading Mapped to:

Entry Terms:

  • Pseudoglioma
  • Episkopi blindness
  • Norrie syndrome
  • Norrie-Warburg syndrome
  • Anderson-Warburg Syndrome
  • Fetal Iritis Syndrome
  • Norrie's Disease
  • Oligophrenia Microphthalmus
  • Pseudoglioma Congenita
  • Whitnall-Norman Syndrome
  • Atrophia bulborum hereditaria
  • Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

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