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

Other names: Cobalamin deficiency, Cubilin deficiency, Imerslund-Grasbeck syndrome (I-GS)
Affected gene: CUBN
Inheritance: Autosomal recessive
Mutation: CanFam3.1  chr2  g.19974334delC

Transmission: Autosomal recessive
Mutation: CanFam3.1
Affected gene: CLCN1