A retinopathy caused by biallelic variants in the GUCY2D gene. [ https://clinicalgenome.org/affiliation/40072/ ]
Synonyms: recessive GUCY2D retinopathy GUCY2D-related recessive retinopathy
Term information
rare, inferred_rare, clingen
amaurosis congenita of Leber, type 1
night blindness, congenital stationary, type 1I
Leber congenital amaurosis caused by mutation in GUCY2D
cone-rod dystrophy caused by mutation in GUCY2D
LCA1
Leber congenital amaurosis 1
retinal blindness, congenital
Leber congenital amaurosis type 1
cone-rod dystrophy type 6
retinal cone dystrophy 2
amaurosis congenita of Leber 1
LCA
GUCY2D cone-rod dystrophy
CORD6
cone-rod dystrophy 6
amaurosis congenita of Leber I
GUCY2D Leber congenital amaurosis
CRB
RCD2