Term Name: Norrie disease
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 )

Relationships
is a type of: syndrome X-linked recessive disease