EFEMP2

EGF containing fibulin extracellular matrix protein 2
OMIM: 604633
PanelMode of inheritanceDetails
2 panels
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IB, 614437
R-numbers: R125
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IB, 614437, aortic aneurysm