EFEMP1

EGF containing fibulin extracellular matrix protein 1
OMIM: 601548
PanelMode of inheritanceDetails
1 panel
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macular Dystrophy/Degeneration/Stargardt Disease, Inherited macular dystrophy (Doyne/dominant drusen)