(Q27677679)
English
Leber congenital amaurosis 5
A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1.
- LCA5
- Leber Congenital Amaurosis type 5
- LEBER CONGENITAL AMAUROSIS 5; LCA5
- Amaurosis congenita of Leber, type 5
- LEBER CONGENITAL AMAUROSIS 5
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