Trait
Small kneecap
Clinical name: Patellar hypoplasia
Underdevelopment of the patella.
Summary
- Also called
- Underdeveloped kneecap, Hypoplastic patellae, Small patella, Small patellae
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Small kneecap, and the rest of your genome, with one test.
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Get my Genome Test15 genes linked to Small kneecap
Changes in these genes cause rare conditions in which Small kneecap 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 |
|---|---|---|
| TBX4T-box transcription factor 4 | Always | In 2 conditions |
| ZSWIM6zinc finger SWIM-type containing 6 | Always | In 2 conditions |
| LMX1BLIM homeobox transcription factor 1 beta | Often (30–79%) | In 3 conditions |
| ORC6origin recognition complex subunit 6 | Often (30–79%) | In 1 condition |
| PITX1paired like homeodomain 1 | Often (30–79%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Often (30–79%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Often (30–79%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Sometimes (5–29%) | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Sometimes (5–29%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 2 conditions |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Rarely (1–4%) | In 1 condition |
| GJB2gap junction protein beta 2 | Rarely (1–4%) | In 1 condition |
| GJB6gap junction protein beta 6 | Rarely (1–4%) | 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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