DSG4

PanelMode of inheritanceDetails
2 panels
R-numbers: R163
Signed-off version 1.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPT6, localized autosomal recessive hypotrichosis-1 (LAH1), Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent), Autosomal recessive hypotrichosis, Hereditary hypotrichosis simplex (HHS), Localized AR Hypotrichosis, localized autosomal recessive hypotrichosis, Hypotrichosis 6, 607903, Hypotrichosis simplex (HS)
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders