LOR

PanelMode of inheritanceDetails
2 panels
R-numbers: R165
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Vohwinkel syndrome with ichthyosis, OMIM:604117
R-numbers: R166
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loricrin keratoderma