Term Name: | Leber congenital amaurosis 5 |
---|---|
Synonyms: | LCA5 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0110215] ( DOID:0110215 ) |