KRT17

PanelMode of inheritanceDetails
1 panel
R-numbers: R165
Signed-off version 1.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Steatocystoma multiplex, 184500, Pachyonychia congenita, Jackson-Lawler type, 167210, Pachyonychia Congenita, Type 2