GUCY2D-related recessive retinopathy

A retinopathy caused by biallelic variants in the GUCY2D gene. [ https://clinicalgenome.org/affiliation/40072/ ]

Synonyms: recessive GUCY2D retinopathy

This is just here as a test because I lose it

Subsets

gard_rare, rare, clingen

creator

https://orcid.org/0000-0001-5208-3432

has narrow synonym

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

Leber congenital amaurosis 1

LCA1

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

MONDO:0100453

Subclass of: