Trait
Increased size of eyes
Clinical name: Abnormally large globe
Diffusely large eye (with megalocornea) without glaucoma.
Summary
- Also called
- Large eyeballs, Large eyes, Megalophthalmos
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test18 genes linked to Increased size of eyes
Changes in these genes cause rare conditions in which Increased size of eyes 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 |
|---|---|---|
| COL2A1collagen type II alpha 1 chain | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Always | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Always | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Often (30–79%) | In 1 condition |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Often (30–79%) | In 2 conditions |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Often (30–79%) | In 1 condition |
| WDR26WD repeat domain 26 | Often (30–79%) | In 1 condition |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ATRATR checkpoint kinase | Not recorded | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Not recorded | In 1 condition |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Not recorded | In 1 condition |
| POMKprotein O-mannose kinase | 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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