Human genes for Leber congenital amaurosis 5
Leber congenital amaurosis 5 [DOID:0110215]
A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.
Synonyms: Leber congenital amaurosis 5, DOID:0110215