Trait
Short lower limbs
Shortening of the legs related to developmental hypoplasia of the bones of the leg.
Summary
- Also called
- Short legs
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test14 genes linked to Short lower limbs
Changes in these genes cause rare conditions in which Short lower limbs 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Very often (80–99%) | In 1 condition |
| GNA11G protein subunit alpha 11 | Very often (80–99%) | In 1 condition |
| MMP13matrix metallopeptidase 13 | Very often (80–99%) | In 3 conditions |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 1 condition |
| FN1fibronectin 1 | Often (30–79%) | In 1 condition |
| LAMA5laminin subunit alpha 5 | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| NOGnoggin | Not recorded | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Not recorded | 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.
Broader traits
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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