split hand-foot malformation 4
Findings
No curated finding names split hand-foot malformation 4 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 TP63 gene.
Definition from the Mondo Disease Ontology (MONDO:0011535), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Aplasia/Hypoplasia involving the metacarpal bonesHPOHP:0005914
- Aplasia/Hypoplasia of metatarsal bonesHPOHP:0001964
- Aplasia/Hypoplasia of the phalanges of the handHPOHP:0009767
- Aplasia/Hypoplasia of the phalanges of the toesHPOHP:0010173
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.
- TP63HGNC:15979
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: split hand-foot malformation 4
- Also called
- SHFM4split hand-foot malformation caused by mutation in TP63split hand-foot malformation type 4split-hand/foot malformation type 4TP63 split hand-foot malformation