Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test11 genes linked to Large face
Changes in these genes cause rare conditions in which Large 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| SOSTsclerostin | Always | In 1 condition |
| AGAaspartylglucosaminidase | Very often (80–99%) | In 1 condition |
| CLCF1cardiotrophin like cytokine factor 1 | Very often (80–99%) | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Very often (80–99%) | In 2 conditions |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 1 condition |
| RAI1retinoic acid induced 1 | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| TP53RKTP53 regulating kinase | Sometimes (5–29%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | 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.
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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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