Trait
Enlarged eyeball
Clinical name: Buphthalmos
Diffusely large eye (with megalocornea) associated with glaucoma.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test28 genes linked to Enlarged eyeball
Changes in these genes cause rare conditions in which Enlarged eyeball 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 |
|---|---|---|
| MAB21L1mab-21 like 1 | Always | In 2 conditions |
| SH3PXD2BSH3 and PX domains 2B | Always | In 1 condition |
| ADAMTSL1ADAMTS like 1 | Often (30–79%) | In 1 condition |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Often (30–79%) | In 2 conditions |
| DAG1dystroglycan 1 | Often (30–79%) | In 2 conditions |
| FUT8fucosyltransferase 8 | Often (30–79%) | In 1 condition |
| GLIS3GLIS family zinc finger 3 | Often (30–79%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Often (30–79%) | In 1 condition |
| MYOCmyocilin | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Often (30–79%) | In 2 conditions |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 2 conditions |
| SIX6SIX homeobox 6 | Often (30–79%) | In 1 condition |
| TEKTEK receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| ATOH7atonal bHLH transcription factor 7 | Sometimes (5–29%) | In 2 conditions |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 2 conditions |
| PXDNperoxidasin | Sometimes (5–29%) | In 1 condition |
| SBF2SET binding factor 2 | Sometimes (5–29%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| FKRPfukutin related protein | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Not recorded | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Not recorded | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | 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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