Mondo Description Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.

Uniprot Description A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus.

Disease Ontology Description A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.