Human genes for Norrie disease
Norrie disease [DOID:0060844]
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.
Synonyms: Norrie disease, DOID:0060844, Norrie disorder, Norrie syndrome, Norrie diseases ...