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Norrie disease
Summary
- Synonym
-
- Episkopi blindness
- Norrie-Warburg disease
- atrophia bulborum hereditaria
- Definition
- A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
- Super Class
- X-linked recessive disease syndrome
Related Genes
