GPR143

G protein-coupled receptor 143
OMIM: 300808
PanelMode of inheritanceDetails
2 panels
R-numbers: R39
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nystagmus 6, congenital, X-linked, 300814, Ocular albinism, type I, Ocular albinism, type I, Nettleship-Falls type, 300500
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism), Eye Disorders, Ocular albinism, type I, Nystagmus, Nystagmus 6, congenital, X-linked, 300814, Ocular albinism, type I, Nettleship-Falls type, 300500