Kjennetegn

Kjennetegn knyttet til LGI1

leucine rich glioma inactivated 1

Human Phenotype Ontology knytter 132 kjennetegn til LGI1, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

LGI1

Abnormality of the nervous system

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

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Small head present at birth	Alltid
Eye folds	Ofte (30–79 %)
Sparse eyebrow	Ofte (30–79 %)
Focal sensory seizure with olfactory features	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Long, narrow head	Noen ganger (5–29 %)
Prominent metopic ridge	Noen ganger (5–29 %)
Wide nasal bridge	Noen ganger (5–29 %)
Abnormally small head	Sjelden (1–4%)
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 musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Appendicular hypotonia	Alltid
Involuntary muscle stiffness, contraction, or spasm	Alltid
Low muscle tone	Alltid
Muscle weakness	Svært ofte (80–99 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Low muscle tone in trunk	Ofte (30–79 %)
Muscle degeneration	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Increased muscle tone of arm or leg	Alltid
Broad finger	Sjelden (1–4%)
Short finger	Sjelden (1–4%)
Wide toe bones	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Umbilical hernia	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 cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Glabellar hemangioma	Ofte (30–79 %)
Hole in heart wall separating two lower heart chambers	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Hearing impairment	Ofte (30–79 %)
Large ears	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Impairment of activities of daily living	Alltid
Sudden death	Alltid

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Short stature	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

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

Abnormality of the endocrine system

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Cross-eyed	Sjelden (1–4%)

Abnormality of the immune system

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

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Absent thumbnail	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Respiratory failure	Alltid

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 LGI1 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test