short-rib thoracic dysplasia 10 with or without polydactyly
Findings
No curated finding names short-rib thoracic dysplasia 10 with or without polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
Definition from the Mondo Disease Ontology (MONDO:0014284), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- Lateral clavicle hookHPOHP:0000895
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.
- IFT172HGNC:30391
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: short-rib thoracic dysplasia 10 with or without polydactyly
- Also called
- SRTD10