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Traits
Traits linked to NPRL2
NPR2 like, GATOR1 complex subunit
The Human Phenotype Ontology links 27 traits to NPRL2, 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 |
|---|---|
| EEG with focal epileptiform discharges | Very often (80–99%) |
| Seizure affecting one half of brain | Very often (80–99%) |
| Focal cortical dysplasia | Often (30–79%) |
| Grand mal seizures | Often (30–79%) |
| Interictal EEG abnormality | Often (30–79%) |
| Nocturnal seizures | Often (30–79%) |
| Autism spectrum disorder | Sometimes (5–29%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Cognitive impairment | Sometimes (5–29%) |
| Deja vu | Sometimes (5–29%) |
| Focal aware seizure | Sometimes (5–29%) |
| Focal impaired awareness seizure | Sometimes (5–29%) |
| Hallucinations of sound | Sometimes (5–29%) |
| Infantile spasms | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Loss of expressive speech | Sometimes (5–29%) |
| Multifocal epileptiform discharges | Sometimes (5–29%) |
| Pins and needles feeling | Sometimes (5–29%) |
| Visual hallucinations | Sometimes (5–29%) |
| Hemimegalencephaly | Rarely (1–4%) |
| Hypsarrhythmia | Rarely (1–4%) |
| More grooves in brain | Rarely (1–4%) |
| Simple febrile seizure | Rarely (1–4%) |
| Epilepsy | Not recorded |
Abnormality of the integument
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Pain | 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 NPRL2 and how often each is seen. Find out more at hpo.jax.org.
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