Kenmerken

Kenmerken gekoppeld aan SCN2A

sodium voltage-gated channel alpha subunit 2

De Human Phenotype Ontology koppelt 204 kenmerken aan SCN2A, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

SCN2A

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Autism	Altijd
Bilateral tonic-clonic seizure with focal onset	Altijd
Cerebellar edema	Altijd
Delayed ability to stand	Altijd
Dystonia	Altijd
Encephalopathy	Altijd
Epilepsy	Altijd
Epileptic encephalopathy	Altijd
Episodic ataxia	Altijd
Fluid-filled sac located in membrane surrounding brain or spinal cord	Altijd
Generalized brain degeneration	Altijd
Grand mal seizures	Altijd
Hyperactive movements	Altijd
Intellectual disability, severe	Altijd
Repeated seizures without recovery between them	Altijd
Severe global developmental delay	Altijd
Tonic seizure	Altijd
Cognitive impairment	Heel vaak (80–99%)
Episodic hemiplegia	Heel vaak (80–99%)
Focal motor seizure	Heel vaak (80–99%)
Generalized myoclonic seizure	Heel vaak (80–99%)
Generalized-onset seizure	Heel vaak (80–99%)
Global developmental delay	Heel vaak (80–99%)
Hypsarrhythmia	Heel vaak (80–99%)
Inability to walk	Heel vaak (80–99%)
Infantile spasms	Heel vaak (80–99%)
Intellectual disability	Heel vaak (80–99%)
Jerking	Heel vaak (80–99%)
Loss of developmental milestones	Heel vaak (80–99%)
Multifocal epileptiform discharges	Heel vaak (80–99%)
Neonatal seizure	Heel vaak (80–99%)
Neurodevelopmental delay	Heel vaak (80–99%)
Normal interictal EEG	Heel vaak (80–99%)
Progressive gait ataxia	Heel vaak (80–99%)
Seizure affecting one half of brain	Heel vaak (80–99%)
Abnormal autonomic nervous system physiology	Vaak (30–79%)
Abnormality of the nervous system	Vaak (30–79%)
Anxiety	Vaak (30–79%)
Ataxia	Vaak (30–79%)
Atypical absence seizure	Vaak (30–79%)
Autism spectrum disorder	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Brief seizures with staring spells	Vaak (30–79%)
Chorea	Vaak (30–79%)
Choreoathetosis	Vaak (30–79%)
Complex febrile seizure	Vaak (30–79%)
Degeneration of cerebrum	Vaak (30–79%)
Delayed speech and language development	Vaak (30–79%)
Difficulty sleeping	Vaak (30–79%)
EEG abnormality	Vaak (30–79%)
EEG with burst suppression	Vaak (30–79%)
EEG with focal spikes	Vaak (30–79%)
Epilepsia partialis continua	Vaak (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Vaak (30–79%)
Focal aware seizure	Vaak (30–79%)
Focal clonic seizure	Vaak (30–79%)
Focal emotional seizure with laughing	Vaak (30–79%)
Focal hemiclonic seizure	Vaak (30–79%)
Focal impaired awareness autonomic seizure	Vaak (30–79%)
Focal impaired awareness seizure	Vaak (30–79%)
Focal tonic seizure	Vaak (30–79%)
Generalized clonic seizure	Vaak (30–79%)
Generalized tonic seizure	Vaak (30–79%)
Increased reflexes	Vaak (30–79%)
Interictal epileptiform activity	Vaak (30–79%)
Involuntary movements	Vaak (30–79%)
Involuntary writhing movements in fingers, hands, toes, and feet	Vaak (30–79%)
Lethargy	Vaak (30–79%)
Myoclonic seizure	Vaak (30–79%)
Obsessive-compulsive trait	Vaak (30–79%)
Parkinsonism	Vaak (30–79%)
Paroxysmal dyskinesia	Vaak (30–79%)
Photosensitive myoclonic seizure	Vaak (30–79%)
Photosensitive tonic-clonic seizure	Vaak (30–79%)
Slow movements	Vaak (30–79%)
Tetraparesis	Vaak (30–79%)
Abnormal corpus callosum morphology	Soms (5–29%)
Abnormal pyramidal sign	Soms (5–29%)
Absent reflexes	Soms (5–29%)
Action tremor	Soms (5–29%)
Aggressive behavior	Soms (5–29%)
Atypical absence status epilepticus	Soms (5–29%)
Balance impairment	Soms (5–29%)
Bulbar signs	Soms (5–29%)
Can't control feelings	Soms (5–29%)
Clonic seizure	Soms (5–29%)
Cortical dysplasia	Soms (5–29%)
Degeneration of cerebellum	Soms (5–29%)
Delayed myelination	Soms (5–29%)
Difficulty articulating speech	Soms (5–29%)
Diffuse cerebral atrophy	Soms (5–29%)
Diffuse white matter abnormalities	Soms (5–29%)
Disorder of involuntary muscle movements	Soms (5–29%)
Dysgenesis of the hippocampus	Soms (5–29%)
EEG with focal epileptiform discharges	Soms (5–29%)
EEG with generalized epileptiform discharges	Soms (5–29%)
EEG with spike-wave complexes	Soms (5–29%)
Epileptic spasm	Soms (5–29%)
Experiential epileptic aura	Soms (5–29%)
Eyelid myoclonia seizure	Soms (5–29%)
Fewer and broader ridges in brain	Soms (5–29%)
Focal head nodding automatism seizure	Soms (5–29%)
Generalized cerebral degeneration/underdevelopment	Soms (5–29%)
Headache	Soms (5–29%)
Impulsivity	Soms (5–29%)
Incoordination	Soms (5–29%)
Limb myoclonus	Soms (5–29%)
More active than typical	Soms (5–29%)
Neonatal electro-clinical seizure with behavior arrest	Soms (5–29%)
Poor fine motor coordination	Soms (5–29%)
Self-injurious behavior	Soms (5–29%)
Short attention span	Soms (5–29%)
Slurred speech	Soms (5–29%)
Status epilepticus without prominent motor symptoms	Soms (5–29%)
Sudden loss of muscle tone	Soms (5–29%)
Tremor	Soms (5–29%)
Underdevelopment of part of brain called corpus callosum	Soms (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Soms (5–29%)
Worsening neurological symptoms	Soms (5–29%)
Continuous spike and waves during slow sleep	Zelden (1–4%)
Mental deterioration	Zelden (1–4%)
Simple febrile seizure	Zelden (1–4%)
Brain imaging abnormality	Niet vastgelegd
Psychomotor deterioration	Niet vastgelegd

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Abnormally small head	Vaak (30–79%)
Facial tics	Vaak (30–79%)
Limited neck range of motion	Vaak (30–79%)
Decreased facial muscle tone	Soms (5–29%)
Downturned corners of mouth	Soms (5–29%)
Drooling	Soms (5–29%)
Exaggerated cupid's bow	Soms (5–29%)
High forehead	Soms (5–29%)
Thin eyebrow	Soms (5–29%)
Cleft palate	Zelden (1–4%)
Depressed nasal bridge	Zelden (1–4%)
Nasal tip, upturned	Zelden (1–4%)
Sloping forehead	Zelden (1–4%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Vomiting	Altijd
Abnormality of the gastrointestinal tract	Heel vaak (80–99%)
Gastrointestinal dysmotility	Heel vaak (80–99%)
Abdominal bloating	Vaak (30–79%)
Anorexia	Vaak (30–79%)
Constipation	Vaak (30–79%)
Diarrhea	Vaak (30–79%)
Feeding difficulties	Vaak (30–79%)
Oral-pharyngeal dysphagia	Vaak (30–79%)
Poor suck	Vaak (30–79%)
Poor swallowing	Vaak (30–79%)
Nausea	Soms (5–29%)
Umbilical hernia	Zelden (1–4%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Involuntary, rapid, rhythmic eye movements	Altijd
Abnormal involuntary eye movements	Vaak (30–79%)
Dilated pupil	Vaak (30–79%)
Inward turning cross eyed	Vaak (30–79%)
Outward facing eye ball	Vaak (30–79%)
Ocular flutter	Soms (5–29%)
Oculomotor apraxia	Soms (5–29%)
Staring gaze	Soms (5–29%)
Visual impairment	Soms (5–29%)
Cross-eyed	Zelden (1–4%)

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Functional motor deficit	Heel vaak (80–99%)
Cogwheel rigidity	Vaak (30–79%)
Decreased muscle tone in infant	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Poor head control	Vaak (30–79%)
Rigidity	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Soms (5–29%)
Scoliosis	Soms (5–29%)
Spasticity and rigidity of muscles	Soms (5–29%)
Spastic tetraplegia	Niet vastgelegd

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Dropped arches	Soms (5–29%)
Limited knee straightening	Soms (5–29%)
Pes valgus	Soms (5–29%)
Skewfoot	Soms (5–29%)
Tibial torsion	Soms (5–29%)
Broad finger	Zelden (1–4%)
Short finger	Zelden (1–4%)
Talipes valgus	Zelden (1–4%)
Wide toe bones	Zelden (1–4%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Abnormal skin structure	Vaak (30–79%)
Flushing	Vaak (30–79%)
Paleness	Vaak (30–79%)
Blue discoloration of the skin	Soms (5–29%)
Cyanotic episode	Soms (5–29%)
Excessive sweating	Soms (5–29%)
Absent thumbnail	Zelden (1–4%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormal T-wave	Soms (5–29%)
Aortopulmonary collateral arteries	Soms (5–29%)
Cardiac conduction abnormality	Soms (5–29%)
Abnormal heart rate	Zelden (1–4%)
Disease of the heart muscle	Zelden (1–4%)
Hole in heart wall separating two lower heart chambers	Zelden (1–4%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Renal dysplasia	Zelden (1–4%)
Short penis	Zelden (1–4%)
Ureterocele	Zelden (1–4%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Apnea	Vaak (30–79%)
Aspiration	Soms (5–29%)
Breathing difficulties	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Dizziness	Altijd
Paroxysmal vertigo	Vaak (30–79%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Early onset of puberty	Zelden (1–4%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent respiratory infections	Vaak (30–79%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Vaak (30–79%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Dehydration	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan SCN2A gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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