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Norrie disease MeSH Supplementary Concept Data 2022


MeSH Supplementary
Norrie disease
Unique ID
C537849
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537849
Entry Term(s)
Anderson-Warburg Syndrome
Atrophia bulborum hereditaria
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration
Episkopi blindness
Fetal Iritis Syndrome
Norrie syndrome
Norrie's Disease
Norrie-Warburg syndrome
Oligophrenia Microphthalmus
Pseudoglioma
Pseudoglioma Congenita
Whitnall-Norman Syndrome
Registry Number
0
Heading Mapped to
Blindness / *congenital
*Nervous System Diseases
*Retinal Degeneration
*Spasms, Infantile
*Genetic Diseases, X-Linked
Frequency
84
Note
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 of Entry
2010/08/25
Revision Date
2018/09/24
Norrie disease Preferred
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