Trait
Abnormally small eyeball on both sides
Clinical name: Bilateral microphthalmos
A developmental anomaly characterized by abnormal smallness of both eyes.
Summary
- Also called
- Decreased size of both eyeballs, Microphthalmia, bilateral
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test29 genes linked to Abnormally small eyeball on both sides
Changes in these genes cause rare conditions in which Abnormally small eyeball on both sides 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 |
|---|---|---|
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Always | In 1 condition |
| GDF3growth differentiation factor 3 | Very often (80–99%) | In 1 condition |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CAPN15calpain 15 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| PAX6paired box 6 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Not recorded | In 1 condition |
| MYRFmyelin regulatory factor | Not recorded | In 1 condition |
| PTCH1patched 1 | Not recorded | In 1 condition |
| SHHsonic hedgehog signaling molecule | Not recorded | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Not recorded | In 1 condition |
| TCOF1treacle ribosome biogenesis 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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