SLC26A2-related skeletal dysplasia
MONDO:0100592Mondo
Findings
No curated finding names SLC26A2-related skeletal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0100592), 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.
- SLC26A2HGNC:10994
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of