Leber congenital amaurosis 5

Term ID

DOID:0110215

Synonyms

• LCA5

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/17546029

References

• ICD10CM:H35.5
• OMIM:604537

Ontology

Human Disease   ( DOID:0110215 )