Leber congenital amaurosis 5
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
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Leber congenital amaurosis 5
Summary
Leber congenital amaurosis 5 is a rare disease[1].
Key Facts
- Leber congenital amaurosis 5's instance of is recorded as rare disease[2].
- Leber congenital amaurosis 5's instance of is recorded as class of disease[3].
- Leber congenital amaurosis 5 is a type of Leber congenital amaurosis[4].
- Leber congenital amaurosis 5 is a type of genetic disease[5].
- Leber congenital amaurosis 5 is a type of autosomal recessive disease[6].
- Leber congenital amaurosis 5's genetic association is recorded as LCA5[7].
- Leber congenital amaurosis 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110215[8].
- Leber congenital amaurosis 5's exact match is recorded as http://identifiers.org/doid/DOID:0110215[9].
- Leber congenital amaurosis 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].