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 )

Relationships
is a type of: autosomal recessive disease Leber congenital amaurosis