Özellikler

LGI1 ile ilişkili özellikler

leucine rich glioma inactivated 1

Human Phenotype Ontology, LGI1 ile ilişkili 132 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

LGI1

Abnormality of the nervous system

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

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Small head present at birth	Her zaman
Eye folds	Sık (%30–79)
Sparse eyebrow	Sık (%30–79)
Focal sensory seizure with olfactory features	Bazen (%5–29)
Little lower jaw	Bazen (%5–29)
Long, narrow head	Bazen (%5–29)
Prominent metopic ridge	Bazen (%5–29)
Wide nasal bridge	Bazen (%5–29)
Abnormally small head	Seyrek (%1–4)
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 musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Appendicular hypotonia	Her zaman
Involuntary muscle stiffness, contraction, or spasm	Her zaman
Low muscle tone	Her zaman
Muscle weakness	Çok sık (%80–99)
Decreased muscle tone in infant	Sık (%30–79)
Low muscle tone in trunk	Sık (%30–79)
Muscle degeneration	Sık (%30–79)
Poor head control	Sık (%30–79)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Increased muscle tone of arm or leg	Her zaman
Broad finger	Seyrek (%1–4)
Short finger	Seyrek (%1–4)
Wide toe bones	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Sık (%30–79)
Poor suck	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Umbilical hernia	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 cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Glabellar hemangioma	Sık (%30–79)
Hole in heart wall separating two lower heart chambers	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Hearing impairment	Sık (%30–79)
Large ears	Bazen (%5–29)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Impairment of activities of daily living	Her zaman
Sudden death	Her zaman

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Short stature	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Caesarean section	Bazen (%5–29)

Abnormality of the endocrine system

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

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Cross-eyed	Seyrek (%1–4)

Abnormality of the immune system

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

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Absent thumbnail	Seyrek (%1–4)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Respiratory failure	Her zaman

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: LGI1 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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