polydactyly, postaxial, type A8
MONDO:0029130Mondo
Findings
No curated finding names polydactyly, postaxial, type A8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
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.
- Short statureHPOHP:0004322
- 3 of 10 reported patients
- Genu valgumHPOHP:0002857
- 2 of 10 reported patients
- Nail dysplasiaHPOHP:0002164
- 1 of 10 reported patients
- Postaxial polydactylyHPOHP:0100259
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.
- GLI1HGNC:4317
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of