WNT10Bbiallelic pathogenic variations are loss-of-function mutations. Some heterozygous patients with one of these loss-of-function variations exhibit a mild form of split hands and/or split feet. Most variations occur in in the WNT-domain, at the C-terminal part of the protein. Teeth agenesis, small or cone-shaped teeth have also been described with heterozygous WNT10Bloss-of-function. No obvious phenotype-genotype correlation has been established yet to explain why some heterozygous patients have teeth anomalies and some others have mild features of SHFM.
WNT10B