Term Name: Leber congenital amaurosis 13
Synonyms: LCA13
Definition: A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
Ontology: Human Disease [DOID:0110330]   ( DOID:0110330 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease Leber congenital amaurosis