Trait
Optic disc hypoplasia
Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.
Summary
- Also called
- Hypoplastic optic discs
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Optic disc hypoplasia, and the rest of your genome, with one test.
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Get my Genome Test20 genes linked to Optic disc hypoplasia
Changes in these genes cause rare conditions in which Optic disc hypoplasia 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 |
|---|---|---|
| DDHD2DDHD domain containing 2 | Often (30–79%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| FANCBFA complementation group B | Often (30–79%) | In 1 condition |
| FZD5frizzled class receptor 5 | Often (30–79%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Often (30–79%) | In 3 conditions |
| SRD5A3steroid 5 alpha-reductase 3 | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sometimes (5–29%) | In 1 condition |
| PLXNA1plexin A1 | Sometimes (5–29%) | In 1 condition |
| ARSLarylsulfatase L | Rarely (1–4%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Rarely (1–4%) | In 1 condition |
| TRIT1tRNA isopentenyltransferase 1 | Rarely (1–4%) | In 1 condition |
| GDF3growth differentiation factor 3 | Not recorded | In 1 condition |
| GDF6growth differentiation factor 6 | Not recorded | In 1 condition |
| HESX1HESX homeobox 1 | Not recorded | In 1 condition |
| SNAP29synaptosome associated protein 29 | 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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