EDAR

ectodysplasin A receptor
OMIM: 604095
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
R-numbers: R163
Signed-off version 1.10
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypohidrotic Ectodermal Dysplasia, Dominant, [Hair morphology 1, hair thickness], 612630, Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia, [Hair morphology 1, hair thickness], 612630 -3, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490