Trăsături

Trăsături asociate cu LGI1

leucine rich glioma inactivated 1

Human Phenotype Ontology asociază 132 trăsături cu LGI1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

LGI1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Bilateral tonic-clonic seizure with focal onset	Întotdeauna
Delayed ability to sit	Întotdeauna
Delayed ability to walk	Întotdeauna
Delayed speech and language development	Întotdeauna
EEG with focal epileptiform discharges	Întotdeauna
Epilepsy	Întotdeauna
Generalized clonic seizure	Întotdeauna
Grand mal seizures	Întotdeauna
Inability to walk by childhood/adolescence	Întotdeauna
Motor delay	Întotdeauna
Poor eye contact	Întotdeauna
Severe global developmental delay	Întotdeauna
Bilateral tonic-clonic seizure with generalized onset	Foarte des (80–99%)
Epileptic encephalopathy	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Hallucinations of sound	Foarte des (80–99%)
Increased reflexes	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Repeated seizures without recovery between them	Foarte des (80–99%)
Seizure affecting one half of brain	Foarte des (80–99%)
Degeneration of cerebrum	Des (30–79%)
Difficulty finding words	Des (30–79%)
Difficulty sleeping	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with burst suppression	Des (30–79%)
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	Des (30–79%)
Focal aware seizure	Des (30–79%)
Focal aware sensory seizure with auditory features	Des (30–79%)
Focal impaired awareness seizure	Des (30–79%)
Focal sensory seizure with auditory features	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Hypsarrhythmia	Des (30–79%)
Interictal epileptiform activity	Des (30–79%)
Lethargy	Des (30–79%)
Multifocal epileptiform discharges	Des (30–79%)
Abnormal autonomic nervous system physiology	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
CNS hypomyelination	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Deja vu	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
Diffuse white matter abnormalities	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
EEG with abnormally slow frequencies	Uneori (5–29%)
EEG with generalized epileptiform discharges	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Focal automatism seizure	Uneori (5–29%)
Focal autonomic seizure	Uneori (5–29%)
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	Uneori (5–29%)
Focal clonic seizure	Uneori (5–29%)
Focal sensory seizure with cephalic sensation	Uneori (5–29%)
Focal sensory seizure with vestibular features	Uneori (5–29%)
Focal sensory seizure with visual features	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Jerking	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Nocturnal seizures	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Teeth grinding	Uneori (5–29%)
Thin corpus callosum	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%)
Ventriculomegaly	Uneori (5–29%)
Visual hallucinations	Uneori (5–29%)
Behavioral abnormality	Rar (1–4%)
Depression	Rar (1–4%)
Dystonia	Rar (1–4%)
Generalized-onset seizure	Rar (1–4%)
Impulsivity	Rar (1–4%)
Migraine	Rar (1–4%)
Brain imaging abnormality	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Small head present at birth	Întotdeauna
Eye folds	Des (30–79%)
Sparse eyebrow	Des (30–79%)
Focal sensory seizure with olfactory features	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Prominent metopic ridge	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Abnormally small head	Rar (1–4%)
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 musculoskeletal system

Trăsătură	Cât de frecvent apare
Appendicular hypotonia	Întotdeauna
Involuntary muscle stiffness, contraction, or spasm	Întotdeauna
Low muscle tone	Întotdeauna
Muscle weakness	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Muscle degeneration	Des (30–79%)
Poor head control	Des (30–79%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	Întotdeauna
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	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 cardiovascular system

Trăsătură	Cât de frecvent apare
Glabellar hemangioma	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Large ears	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Impairment of activities of daily living	Întotdeauna
Sudden death	Întotdeauna

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the endocrine system

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Rar (1–4%)

Abnormality of the immune system

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

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Absent thumbnail	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory failure	Întotdeauna

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 LGI1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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