Term Name: | Leber congenital amaurosis 10 |
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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 ) |