ABCA12

ATP binding cassette subfamily A member 12
OMIM: 607800
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 242500
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500, Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive congenital ichthyosis, Harlequin ichthyosis