Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
Happle
R
R
D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D013251:Steroid Isomerases; D013577:Syndrome
D002352:Carrier Proteins; D013251:Steroid Isomerases; C090445:EBP protein, human