Term Name: Leber congenital amaurosis 8
Synonyms: LCA8
Definition: A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
Ontology: Human Disease [DOID:0110079]   ( DOID:0110079 )

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