Trait
Oval face
A face with a rounded and slightly elongated outline.
Summary
- Also called
- Oval facial shape, Oval facies
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test19 genes linked to Oval face
Changes in these genes cause rare conditions in which Oval face 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 |
|---|---|---|
| ATXN7L3ataxin 7 like 3 | Always | In 1 condition |
| HYOU1hypoxia up-regulated 1 | Always | In 1 condition |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Always | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Very often (80–99%) | In 1 condition |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Often (30–79%) | In 1 condition |
| SLC25A12solute carrier family 25 member 12 | Often (30–79%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Not recorded | In 1 condition |
| CNTN1contactin 1 | Not recorded | In 1 condition |
| SOX18SRY-box transcription factor 18 | Not recorded | In 1 condition |
| TP63tumor protein p63 | 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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