DISEASES

Disease-gene associations mined from literature

Human genes for Leber congenital amaurosis 4

Leber congenital amaurosis 4 [DOID:0110332]

A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.

Synonyms:  Leber congenital amaurosis 4,  DOID:0110332,  LCA4