Term Name: Leber congenital amaurosis 10
Synonyms: LCA10
Definition: 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.
Ontology: Human Disease [DOID:0110291]   ( DOID:0110291 )

Relationships
is a type of: Leber congenital amaurosis monogenic disease