polydactyly, postaxial, type A1
MONDO:0008266Mondo
Findings
No curated finding names polydactyly, postaxial, type A1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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.
- Broad halluxHPOHP:0010055
- 6 of 6 reported patients
- Broad thumbHPOHP:0011304
- 6 of 6 reported patients
- Postaxial foot polydactylyHPOHP:0001830
- 11 of 11 reported patients
- Postaxial hand polydactylyHPOHP:0001162
- 21 of 21 reported patients
- Preaxial foot polydactylyHPOHP:0001841
- 2 of 3 reported patients
- Cutaneous finger syndactylyHPOHP:0010554
- 6 of 10 reported patients
- Cutaneous syndactyly of toesHPOHP:0010621
- 6 of 10 reported patients
- Preaxial hand polydactylyHPOHP:0001177
- 1 of 3 reported patients
- SyndactylyHPOHP:0001159
- 1 of 11 reported patients
- Anal atresiaHPOHP:0002023
- 0 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 10 reported patients
- Growth delayHPOHP:0001510
- 0 of 10 reported patients
Show the remaining 6
- HypertelorismHPOHP:0000316
- 0 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 10 reported patients
- MacrocephalyHPOHP:0000256
- 0 of 10 reported patients
- Nail dysplasiaHPOHP:0002164
- 0 of 10 reported patients
- Preaxial polydactylyHPOHP:0100258
- 0 of 10 reported patients
- Y-shaped metacarpalsHPOHP:0006042
- 0 of 10 reported patients
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.
- GLI3HGNC:4319
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: polydactyly, postaxial, type A1
- Also called
- polydactyly, postaxial, types A1 and B