PNPLA1

patatin like phospholipase domain containing 1
OMIM: 612121
PanelMode of inheritanceDetails
2 panels
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 10, 615024
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive congenital ichthyosis