Trait
Absent eyelids
Clinical name: Ablepharon
Absent eyelids.
Summary
- Also called
- Missing eyelids, Ablepharon of eyelid, Agenesis of eyelids
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test5 genes linked to Absent eyelids
Changes in these genes cause rare conditions in which Absent eyelids 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 |
|---|---|---|
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Very often (80–99%) | In 3 conditions |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Often (30–79%) | 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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