View phenotype #0000000139

Individual ID 00000135
Associated disease AI unclassified
Phenotype details "Enamel defects" pits and grooves to the surface of the front of the tooth. Affected son with EB carries compound heterozygous mutations in COL17A1 - c.433C>T, p.R145* inherited from mother and c.2003G>A, p.G633D inherited from father. Both mother and father have "carious lesions", but the author is unsure whether this is relate the mutations that they carry. Daughter carries c.433C>T, p.R145* but her phenotype is not described.
Inheritance Familial, autosomal dominant
Owner name Claire Smith