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Other names: Familial enamel hypoplasia (FEH) Affected gene: ACPT Inheritance: Autosomal recessive Mutation: CanFam3.1 chr1 g.106051997dupC c.1189dupG p.(A397Gfs)
Inheritance: Autosomal dominant incomplete Mutation: CanFam3.1 chr3 g.40782144G>A, c.1473+1G>A OMIA link: 000588-9615
Affected gene: TPO Inheritance: Autosomal recessive Mutation: CanFam3.1 chr17 g.784624C>T, c.331C>T OMIA link: 000536-9615
Transmission: Autosomal recessive Mutation: CanFam3.1 Affected gene: CLCN1
Affected gene: F7 Inheritance: Autosomal recessive Mutation: CanFam3.1 chr22 g.60578895G>A, c.407G>A, p.(G136E)