split hand-foot malformation 6
Findings
No curated finding names split hand-foot malformation 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.
Definition from the Mondo Disease Ontology (MONDO:0009157), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by incomplete penetrance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Finger aplasiaHPOHP:0009380
- Finger syndactylyHPOHP:0006101
- Foot oligodactylyHPOHP:0001849
- Split footHPOHP:0001839
- Split handHPOHP:0001171
- Toe syndactylyHPOHP:0001770
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WNT10BHGNC:12775
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: split hand-foot malformation 6
- Also called
- SHFM6split hand-foot malformation caused by mutation in WNT10Bsplit hand-foot malformation type 6split-hand/foot malformation type 6WNT10B split hand-foot malformation