Trăsături

Trăsături asociate cu SCN2A

sodium voltage-gated channel alpha subunit 2

Human Phenotype Ontology asociază 204 trăsături cu SCN2A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SCN2A

Abnormality of the nervous system

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

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Facial tics	Des (30–79%)
Limited neck range of motion	Des (30–79%)
Decreased facial muscle tone	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Drooling	Uneori (5–29%)
Exaggerated cupid's bow	Uneori (5–29%)
High forehead	Uneori (5–29%)
Thin eyebrow	Uneori (5–29%)
Cleft palate	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Sloping forehead	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Vomiting	Întotdeauna
Abnormality of the gastrointestinal tract	Foarte des (80–99%)
Gastrointestinal dysmotility	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Anorexia	Des (30–79%)
Constipation	Des (30–79%)
Diarrhea	Des (30–79%)
Feeding difficulties	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Nausea	Uneori (5–29%)
Umbilical hernia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Abnormal involuntary eye movements	Des (30–79%)
Dilated pupil	Des (30–79%)
Inward turning cross eyed	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Ocular flutter	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Staring gaze	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Cross-eyed	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Functional motor deficit	Foarte des (80–99%)
Cogwheel rigidity	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Low muscle tone	Des (30–79%)
Poor head control	Des (30–79%)
Rigidity	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Spastic tetraplegia	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Uneori (5–29%)
Limited knee straightening	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Skewfoot	Uneori (5–29%)
Tibial torsion	Uneori (5–29%)
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Talipes valgus	Rar (1–4%)
Wide toe bones	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin structure	Des (30–79%)
Flushing	Des (30–79%)
Paleness	Des (30–79%)
Blue discoloration of the skin	Uneori (5–29%)
Cyanotic episode	Uneori (5–29%)
Excessive sweating	Uneori (5–29%)
Absent thumbnail	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal T-wave	Uneori (5–29%)
Aortopulmonary collateral arteries	Uneori (5–29%)
Cardiac conduction abnormality	Uneori (5–29%)
Abnormal heart rate	Rar (1–4%)
Disease of the heart muscle	Rar (1–4%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Des (30–79%)
Aspiration	Uneori (5–29%)
Breathing difficulties	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Întotdeauna
Paroxysmal vertigo	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Dehydration	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SCN2A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu