RS1

PanelMode of inheritanceDetails
1 panel
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 (males with foveal schisis), Eye Disorders