Klippel-Feil syndrome 2, autosomal recessive
MONDO:0008958Mondo
Findings
No curated finding names Klippel-Feil syndrome 2, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008958), 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.
- MEOX1HGNC:7013
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: Klippel-Feil syndrome 2, autosomal recessive
- Also called
- isolated Klippel-Feil syndrome caused by mutation in MEOX1MEOX1 isolated Klippel-Feil syndrome