short-rib thoracic dysplasia 15 with polydactyly
MONDO:0014907Mondo
Findings
No curated finding names short-rib thoracic dysplasia 15 with polydactyly 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
- Fetal onset · Antenatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Cone-shaped epiphysisHPOHP:0010579
- 2 of 2 reported patients
- Horizontal ribsHPOHP:0000888
- 3 of 3 reported patients
- Narrow chestHPOHP:0000774
- 9 of 9 reported patients
- Postaxial hand polydactylyHPOHP:0001162
- 3 of 3 reported patients
- Postaxial polydactylyHPOHP:0100259
- 3 of 3 reported patients
- Short long boneHPOHP:0003026
- 6 of 6 reported patients
- Median cleft upper lipHPOHP:0000161
- 2 of 3 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- Aplasia of the epiglottisHPOHP:0008753
- 1 of 3 reported patients
Show the remaining 1
- Atrioventricular canal defectHPOHP:0006695
- 1 of 3 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.
- DYNC2LI1HGNC:24595
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: short-rib thoracic dysplasia 15 with polydactyly
- Also called
- short-rib thoracic dysplasia 15 with polydactyly; SRTD15SRTD15