Term Name: | Norrie disease |
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Synonyms: | atrophia bulborum hereditaria, Episkopi blindness, Norrie-Warburg disease |
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. |
Ontology: | Human Disease [DOID:0060844] ( DOID:0060844 ) |