View phenotype #0000000138

Individual ID 00000134
Associated disease AI unclassified
Phenotype details Mother affected with EB has compound heterozygous mutations in COL17A1: a 25bp duplication (frameshift) described as "3514ins25" in the article and the c.1880G>T mutation. Both children have AI and have inherited the c.1880G>T mutation
Inheritance Familial, autosomal dominant
Owner name Claire Smith