Term Name: Leber congenital amaurosis 6
Synonyms: LCA6
Definition: A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.
Ontology: Human Disease [DOID:0110329]   ( DOID:0110329 )

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