Term Name: | Leber congenital amaurosis 6 |
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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 ) |