CDH3

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EEM SYNDROME 225280, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
R-numbers: R163
Signed-off version 1.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EEM SYNDROME, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280, i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280, Macular Dystrophy/Degeneration/Stargardt Disease, Eye Disorders
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280