Ectodermal dysplasiaGene: CDH3
Congenital hypotrichosis with juvenile macular dystrophy; Ectodermal dysplasia, with ectrodactyly and macular dystrophy
Comment on list classification: Promoted from red to green due to expert review. It is a confirmed DD gene for EEM syndrome and Hypotrichosis, congenital, with juvenile macular dystrophy. A Dutch and a Brazilian family with EEM reported in OMIM with different homozygous variants, and a further case identified in the literature for EEM.
Created: 25 Jul 2016, 9:03 a.m.
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.
Created: 25 Jul 2016, 8:56 a.m.
gene: CDH3 was added gene: CDH3 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH3 were set to 22140374 Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280