Kjennetegn

Kjennetegn knyttet til SCN2A

sodium voltage-gated channel alpha subunit 2

Human Phenotype Ontology knytter 204 kjennetegn til SCN2A, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

SCN2A

Abnormality of the nervous system

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

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Abnormally small head	Ofte (30–79 %)
Facial tics	Ofte (30–79 %)
Limited neck range of motion	Ofte (30–79 %)
Decreased facial muscle tone	Noen ganger (5–29 %)
Downturned corners of mouth	Noen ganger (5–29 %)
Drooling	Noen ganger (5–29 %)
Exaggerated cupid's bow	Noen ganger (5–29 %)
High forehead	Noen ganger (5–29 %)
Thin eyebrow	Noen ganger (5–29 %)
Cleft palate	Sjelden (1–4%)
Depressed nasal bridge	Sjelden (1–4%)
Nasal tip, upturned	Sjelden (1–4%)
Sloping forehead	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Vomiting	Alltid
Abnormality of the gastrointestinal tract	Svært ofte (80–99 %)
Gastrointestinal dysmotility	Svært ofte (80–99 %)
Abdominal bloating	Ofte (30–79 %)
Anorexia	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Feeding difficulties	Ofte (30–79 %)
Oral-pharyngeal dysphagia	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Nausea	Noen ganger (5–29 %)
Umbilical hernia	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Involuntary, rapid, rhythmic eye movements	Alltid
Abnormal involuntary eye movements	Ofte (30–79 %)
Dilated pupil	Ofte (30–79 %)
Inward turning cross eyed	Ofte (30–79 %)
Outward facing eye ball	Ofte (30–79 %)
Ocular flutter	Noen ganger (5–29 %)
Oculomotor apraxia	Noen ganger (5–29 %)
Staring gaze	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Cross-eyed	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Functional motor deficit	Svært ofte (80–99 %)
Cogwheel rigidity	Ofte (30–79 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)
Rigidity	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)
Spastic tetraplegia	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Dropped arches	Noen ganger (5–29 %)
Limited knee straightening	Noen ganger (5–29 %)
Pes valgus	Noen ganger (5–29 %)
Skewfoot	Noen ganger (5–29 %)
Tibial torsion	Noen ganger (5–29 %)
Broad finger	Sjelden (1–4%)
Short finger	Sjelden (1–4%)
Talipes valgus	Sjelden (1–4%)
Wide toe bones	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Abnormal skin structure	Ofte (30–79 %)
Flushing	Ofte (30–79 %)
Paleness	Ofte (30–79 %)
Blue discoloration of the skin	Noen ganger (5–29 %)
Cyanotic episode	Noen ganger (5–29 %)
Excessive sweating	Noen ganger (5–29 %)
Absent thumbnail	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormal T-wave	Noen ganger (5–29 %)
Aortopulmonary collateral arteries	Noen ganger (5–29 %)
Cardiac conduction abnormality	Noen ganger (5–29 %)
Abnormal heart rate	Sjelden (1–4%)
Disease of the heart muscle	Sjelden (1–4%)
Hole in heart wall separating two lower heart chambers	Sjelden (1–4%)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Renal dysplasia	Sjelden (1–4%)
Short penis	Sjelden (1–4%)
Ureterocele	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Apnea	Ofte (30–79 %)
Aspiration	Noen ganger (5–29 %)
Breathing difficulties	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Dizziness	Alltid
Paroxysmal vertigo	Ofte (30–79 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of puberty	Sjelden (1–4%)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent respiratory infections	Ofte (30–79 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Dehydration	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til SCN2A og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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