asphyxiating thoracic dystrophy 2
MONDO:0012644Mondo
Findings
No curated finding names asphyxiating thoracic dystrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.
Definition from the Mondo Disease Ontology (MONDO:0012644), read 2026-09-29. CC BY 4.0.
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.
- IFT80HGNC:29262
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
6 names
Resolves to: asphyxiating thoracic dystrophy 2
- Also called
- asphyxiating thoracic dystrophy type 2ATD2IFT80 Jeune syndromeJeune syndrome caused by mutation in IFT80short-rib thoracic dysplasia 2 with or without polydactylySRTD2