Human genes for Leber congenital amaurosis 10
Leber congenital amaurosis 10 [DOID:0110291]
A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
Synonyms: Leber congenital amaurosis 10, DOID:0110291, LCA10