DISEASES

Disease-gene associations mined from literature

Human genes for Leber congenital amaurosis 13

Leber congenital amaurosis 13 [DOID:0110330]

A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.

Synonyms:  Leber congenital amaurosis 13,  DOID:0110330,  LCA13