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congenital stationary night blindness 1F

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.
Uniprot Description An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.
Mondo Term and Equivalent IDs
MONDO:0014026:  congenital stationary night blindness 1F
UMLS:C3554399: