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 |
|
