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Trait

Large joint hypermobility

The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.

HPO HP:0430047

Summary

Body system
Abnormality of the musculoskeletal system

3 genes linked to Large joint hypermobility

Changes in these genes cause rare conditions in which Large joint hypermobility is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
B3GALT6beta-1,3-galactosyltransferase 6AlwaysIn 2 conditions
FKBP14FKBP prolyl isomerase 14AlwaysIn 1 condition
EMILIN1elastin microfibril interfacer 1Often (30–79%)In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Double-Jointed

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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