View phenotype #0000000140

Individual ID 00000136
Associated disease AI unclassified
Phenotype details "Dental abnormalities" affected male with EB is compound heterozygous for c.3676C>T, p.R1226* (See variant #00000133) and c.1826G>A, p.G609D. Mother carries c.1826G>A, p.G609D.
Inheritance Familial, autosomal dominant
Owner name Claire Smith