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Traits
Traits linked to KCND3
potassium voltage-gated channel subfamily D member 3
The Human Phenotype Ontology links 43 traits to KCND3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Degeneration of cerebellum | Always |
| Inability to coordinate movements when walking | Always |
| Abnormal gait | Very often (80–99%) |
| Ataxia | Very often (80–99%) |
| Difficulty articulating speech | Very often (80–99%) |
| Balance impairment | Often (30–79%) |
| Decreased reflex response | Often (30–79%) |
| Impaired vibration sensation at ankles | Often (30–79%) |
| Increased reflexes | Often (30–79%) |
| Instability or lack of coordination of central trunk muscles | Often (30–79%) |
| Limb ataxia | Often (30–79%) |
| Cognitive impairment | Sometimes (5–29%) |
| Incoordination | Sometimes (5–29%) |
| Slurred speech | Sometimes (5–29%) |
| Wide based walk | Sometimes (5–29%) |
| Jerking | Not recorded |
| Postural tremor | Not recorded |
| Progressive cerebellar ataxia | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Palpitations | Always |
| ST segment elevation | Always |
| Complete right bundle branch block | Often (30–79%) |
| Fainting spell | Often (30–79%) |
| Heart stops beating | Often (30–79%) |
| Presyncope | Often (30–79%) |
| Prolonged QT interval | Often (30–79%) |
| Elevated heart rate | Sometimes (5–29%) |
| First degree atrioventricular block | Sometimes (5–29%) |
| Paroxysmal ventricular tachycardia | Sometimes (5–29%) |
| Sick sinus syndrome | Sometimes (5–29%) |
| Supraventricular tachycardia | Sometimes (5–29%) |
| Ventricular fibrillation | Sometimes (5–29%) |
| Trifascicular block | Rarely (1–4%) |
| Ventricular arrhythmia | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Saccadic smooth pursuit interruptions | Often (30–79%) |
| Double vision | Sometimes (5–29%) |
| Eye muscle paralysis | Sometimes (5–29%) |
| Impaired smooth pursuit | Sometimes (5–29%) |
| Gaze-evoked horizontal nystagmus | Not recorded |
| Intermittent microsaccadic pursuits | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Poor swallowing | Often (30–79%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Loss of bladder control | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Cogwheel rigidity | Sometimes (5–29%) |
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 KCND3 and how often each is seen. Find out more at hpo.jax.org.
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