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Traits
Traits linked to WHRN
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The Human Phenotype Ontology links 22 traits to WHRN, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Difficulties with night vision | Always |
| Rod-cone dystrophy | Always |
| Abnormal electroretinogram | Very often (80–99%) |
| Blind spot | Very often (80–99%) |
| Light eye color | Very often (80–99%) |
| Visual loss | Very often (80–99%) |
| Close sighted | Often (30–79%) |
| Clouding of the lens of the eye | Often (30–79%) |
| Decreased clarity of vision | Often (30–79%) |
| Limited peripheral vision | Often (30–79%) |
| Loss of peripheral vision | Often (30–79%) |
| Abnormal color vision | Sometimes (5–29%) |
| Reduced contrast sensitivity | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Always |
| Sensorineural hearing impairment | Always |
| Abnormality of the inner ear | Very often (80–99%) |
| Abnormal vestibular function | Rarely (1–4%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Difficulty sleeping | Often (30–79%) |
| Abnormality of balance | Sometimes (5–29%) |
| Anxiety | Sometimes (5–29%) |
| Depression | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Often (30–79%) |
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.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to WHRN and how often each is seen. Find out more at hpo.jax.org.
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