CDSN

PanelMode of inheritanceDetails
3 panels
R-numbers: R163
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis 2, OMIM:146520
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM:#270300, Peeling skin HP:0040189, erythema HP:0010783, Allergy HP:0012393, Peeling skin syndrome 1, 270300, Hyperkeratosis HP:0000962., Generalised erythroderma HP:0001019, PSS1, Increased IgE level HP:0003212, Pruritus HP:0000989
R-numbers: R166
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders