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Traits
Traits linked to KCNN2
potassium calcium-activated channel subfamily N member 2
The Human Phenotype Ontology links 38 traits to KCNN2, 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 |
|---|---|
| Dystonia | Always |
| Hand tremor | Always |
| Intellectual disability | Always |
| Delayed speech and language development | Very often (80–99%) |
| Global developmental delay | Very often (80–99%) |
| Motor delay | Very often (80–99%) |
| Anxiety | Often (30–79%) |
| Ataxia | Often (30–79%) |
| Attention deficit | Often (30–79%) |
| Autism spectrum disorder | Often (30–79%) |
| Clumsy tandem walking | Often (30–79%) |
| Head tremor | Often (30–79%) |
| Intention tremor | Often (30–79%) |
| Jerking | Often (30–79%) |
| Motor tics | Often (30–79%) |
| Writer's cramp | Often (30–79%) |
| Abnormal periventricular white matter morphology | Sometimes (5–29%) |
| Chorea | Sometimes (5–29%) |
| Delayed CNS myelination | Sometimes (5–29%) |
| Dilated third ventricle | Sometimes (5–29%) |
| Disorder of involuntary muscle movements | Sometimes (5–29%) |
| Grand mal seizures | Sometimes (5–29%) |
| Nocturnal seizures | Sometimes (5–29%) |
| Panic attack | Sometimes (5–29%) |
| Parkinsonism | Sometimes (5–29%) |
| Psychosis | Sometimes (5–29%) |
| Repetitive movements | Sometimes (5–29%) |
| Resting tremor | Sometimes (5–29%) |
| Slow movements | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Impaired smooth pursuit | Often (30–79%) |
| Rotary nystagmus | Often (30–79%) |
| Drooping upper eyelid | Sometimes (5–29%) |
| Duane anomaly | Sometimes (5–29%) |
| Hypermetric saccades | Sometimes (5–29%) |
| Lazy eye | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Wry neck | Often (30–79%) |
| Abnormally small head | Sometimes (5–29%) |
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 KCNN2 and how often each is seen. Find out more at hpo.jax.org.
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