familial clubfoot due to PITX1 point mutation
MONDO:0017383Mondo
Findings
No curated finding names familial clubfoot due to PITX1 point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- PITX1HGNC:9004
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: familial clubfoot due to PITX1 point mutation
- Also called
- hereditary clubfoot due to PITX1 point mutation