Özellikler

SCN2A ile ilişkili özellikler

sodium voltage-gated channel alpha subunit 2

Human Phenotype Ontology, SCN2A ile ilişkili 204 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

SCN2A

Abnormality of the nervous system

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

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Abnormally small head	Sık (%30–79)
Facial tics	Sık (%30–79)
Limited neck range of motion	Sık (%30–79)
Decreased facial muscle tone	Bazen (%5–29)
Downturned corners of mouth	Bazen (%5–29)
Drooling	Bazen (%5–29)
Exaggerated cupid's bow	Bazen (%5–29)
High forehead	Bazen (%5–29)
Thin eyebrow	Bazen (%5–29)
Cleft palate	Seyrek (%1–4)
Depressed nasal bridge	Seyrek (%1–4)
Nasal tip, upturned	Seyrek (%1–4)
Sloping forehead	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Vomiting	Her zaman
Abnormality of the gastrointestinal tract	Çok sık (%80–99)
Gastrointestinal dysmotility	Çok sık (%80–99)
Abdominal bloating	Sık (%30–79)
Anorexia	Sık (%30–79)
Constipation	Sık (%30–79)
Diarrhea	Sık (%30–79)
Feeding difficulties	Sık (%30–79)
Oral-pharyngeal dysphagia	Sık (%30–79)
Poor suck	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Nausea	Bazen (%5–29)
Umbilical hernia	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Involuntary, rapid, rhythmic eye movements	Her zaman
Abnormal involuntary eye movements	Sık (%30–79)
Dilated pupil	Sık (%30–79)
Inward turning cross eyed	Sık (%30–79)
Outward facing eye ball	Sık (%30–79)
Ocular flutter	Bazen (%5–29)
Oculomotor apraxia	Bazen (%5–29)
Staring gaze	Bazen (%5–29)
Visual impairment	Bazen (%5–29)
Cross-eyed	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Functional motor deficit	Çok sık (%80–99)
Cogwheel rigidity	Sık (%30–79)
Decreased muscle tone in infant	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Poor head control	Sık (%30–79)
Rigidity	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Spasticity and rigidity of muscles	Bazen (%5–29)
Spastic tetraplegia	Kaydedilmedi

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Dropped arches	Bazen (%5–29)
Limited knee straightening	Bazen (%5–29)
Pes valgus	Bazen (%5–29)
Skewfoot	Bazen (%5–29)
Tibial torsion	Bazen (%5–29)
Broad finger	Seyrek (%1–4)
Short finger	Seyrek (%1–4)
Talipes valgus	Seyrek (%1–4)
Wide toe bones	Seyrek (%1–4)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Abnormal skin structure	Sık (%30–79)
Flushing	Sık (%30–79)
Paleness	Sık (%30–79)
Blue discoloration of the skin	Bazen (%5–29)
Cyanotic episode	Bazen (%5–29)
Excessive sweating	Bazen (%5–29)
Absent thumbnail	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormal T-wave	Bazen (%5–29)
Aortopulmonary collateral arteries	Bazen (%5–29)
Cardiac conduction abnormality	Bazen (%5–29)
Abnormal heart rate	Seyrek (%1–4)
Disease of the heart muscle	Seyrek (%1–4)
Hole in heart wall separating two lower heart chambers	Seyrek (%1–4)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Renal dysplasia	Seyrek (%1–4)
Short penis	Seyrek (%1–4)
Ureterocele	Seyrek (%1–4)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Apnea	Sık (%30–79)
Aspiration	Bazen (%5–29)
Breathing difficulties	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Dizziness	Her zaman
Paroxysmal vertigo	Sık (%30–79)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of puberty	Seyrek (%1–4)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Sık (%30–79)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Dehydration	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: SCN2A ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

Tek bir test. Ömür boyu yanıtlar.

$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde

Genome Test'imi al