Other names: Familiar enamel hypoplasia (FEH)

Affected gene: ACPT

Inheritance: Autosomal recessive

Mutation: CanFam3.1 1 g.106051997dupC c.1189dupG p.(A397Gfs)

Other names: Nephropathy

Affected gene: COL4A4

Inheritance: Autosomal Recessive

Mutation: CanFam3.1 25 g.39953906T>A c.115A>T p.(K39*)

Affected gene: ADAMTS17

Inheritance: Incomplete Autosomal Dominant

Mutation: CanFam3.1 3 g.40782144G>A c.1473+1G>A 

Affected gene: TPO

Inheritance: Autosomal Recessive

Mutation: CanFam3.1 17 g.784624C>T c.331C>T

Affected gene: SLC3A1

Inheritance: Autosomal dominant

Mutation: CanFam3.1 chr10:46725149-46725154 : 6 bp deletion (del ACCACC)