Trait
Blindness present at birth
Clinical name: Congenital blindness
Blindness with onset at birth.
Summary
- Also called
- Congenital amaurosis
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test8 genes linked to Blindness present at birth
Changes in these genes cause rare conditions in which Blindness present at birth 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 |
|---|---|---|
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Always | In 2 conditions |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 2 conditions |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Sometimes (5–29%) | In 1 condition |
| SARDHsarcosine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | Sometimes (5–29%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Not recorded | In 1 condition |
| RD3RD3 regulator of GUCY2D | 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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