Ectodermal dysplasiaGene: PORCN
Focal dermal hypoplasia syndrome
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported
Created: 10 Aug 2016, 12:14 p.m.
gene: PORCN was added gene: PORCN was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546031; 19309688; 8325042; 17546030 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600