spondyloepimetaphyseal dysplasia with joint laxity
MONDO:0019675Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia with joint laxity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
Definition from the Mondo Disease Ontology (MONDO:0019675), 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.
- EXOC6BHGNC:17085
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: spondyloepimetaphyseal dysplasia with joint laxity
- Also called
- SEMD-JLSEMDJL