Kjennetegn

Kjennetegn knyttet til GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

Human Phenotype Ontology knytter 107 kjennetegn til GRIN2A, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Continuous spike and waves during slow sleep	Svært ofte (80–99 %)
Delayed speech and language development	Svært ofte (80–99 %)
Difficulty finding words	Svært ofte (80–99 %)
EEG with centrotemporal focal spike waves	Svært ofte (80–99 %)
Epilepsy	Svært ofte (80–99 %)
Interictal EEG abnormality	Svært ofte (80–99 %)
Interictal epileptiform activity	Svært ofte (80–99 %)
Language impairment	Svært ofte (80–99 %)
Loss of speech	Svært ofte (80–99 %)
Speech apraxia	Svært ofte (80–99 %)
Spoken word recognition deficit	Svært ofte (80–99 %)
Attention deficit	Ofte (30–79 %)
Atypical absence seizure	Ofte (30–79 %)
Autism spectrum disorder	Ofte (30–79 %)
Behavioral abnormality	Ofte (30–79 %)
Bilateral tonic-clonic seizure with focal onset	Ofte (30–79 %)
Bilateral tonic-clonic seizure with generalized onset	Ofte (30–79 %)
Brief seizures with staring spells	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
EEG with focal sharp waves	Ofte (30–79 %)
EEG with frontal focal spike waves	Ofte (30–79 %)
EEG with frontal focal spikes	Ofte (30–79 %)
EEG with generalized epileptiform discharges	Ofte (30–79 %)
EEG with multifocal slow activity	Ofte (30–79 %)
EEG with temporal focal spikes	Ofte (30–79 %)
Focal aware seizure	Ofte (30–79 %)
Focal hemiclonic seizure	Ofte (30–79 %)
Focal hemifacial clonic seizure	Ofte (30–79 %)
Focal impaired awareness seizure	Ofte (30–79 %)
Focal motor seizure	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Grand mal seizures	Ofte (30–79 %)
Intellectual disability	Ofte (30–79 %)
Intellectual disability, severe	Ofte (30–79 %)
Loss of developmental milestones	Ofte (30–79 %)
Pauses in breathing while sleeping	Ofte (30–79 %)
Profound global developmental delay	Ofte (30–79 %)
Seizure affecting one half of brain	Ofte (30–79 %)
Social and occupational deterioration	Ofte (30–79 %)
Specific learning disability	Ofte (30–79 %)
Speech articulation difficulties	Ofte (30–79 %)
Abnormal myelination	Noen ganger (5–29 %)
Abnormal prosody	Noen ganger (5–29 %)
Abnormally low-pitched voice	Noen ganger (5–29 %)
Aggressive behavior	Noen ganger (5–29 %)
Anxiety	Noen ganger (5–29 %)
Can't control feelings	Noen ganger (5–29 %)
Clumsiness	Noen ganger (5–29 %)
Decreased reflex response	Noen ganger (5–29 %)
Depression	Noen ganger (5–29 %)
Difficulty articulating speech	Noen ganger (5–29 %)
Difficulty sleeping	Noen ganger (5–29 %)
Diffuse cerebral atrophy	Noen ganger (5–29 %)
Dysesthesia	Noen ganger (5–29 %)
Dystonia	Noen ganger (5–29 %)
EEG with generalized polyspikes	Noen ganger (5–29 %)
Epileptic spasm	Noen ganger (5–29 %)
Febrile seizure (within the age range of 3 months to 6 years)	Noen ganger (5–29 %)
Focal clonic seizure	Noen ganger (5–29 %)
Focal myoclonic seizure	Noen ganger (5–29 %)
Generalized clonic seizure	Noen ganger (5–29 %)
Generalized tonic seizure	Noen ganger (5–29 %)
High stepping	Noen ganger (5–29 %)
Hyperactive movements	Noen ganger (5–29 %)
Impulsivity	Noen ganger (5–29 %)
Inability to coordinate movements when walking	Noen ganger (5–29 %)
Inability to speak	Noen ganger (5–29 %)
Incomprehensible speech	Noen ganger (5–29 %)
Intellectual disability, borderline	Noen ganger (5–29 %)
IQ between 34 and 49	Noen ganger (5–29 %)
Jerking	Noen ganger (5–29 %)
Memory impairment	Noen ganger (5–29 %)
Migraine	Noen ganger (5–29 %)
More active than typical	Noen ganger (5–29 %)
Myoclonic absence seizure	Noen ganger (5–29 %)
Nocturnal seizures	Noen ganger (5–29 %)
Non-convulsive status epilepticus without coma	Noen ganger (5–29 %)
Pins and needles feeling	Noen ganger (5–29 %)
Progressive degeneration of movement	Noen ganger (5–29 %)
Psychotic mentation	Noen ganger (5–29 %)
Short attention span	Noen ganger (5–29 %)
Slurred speech	Noen ganger (5–29 %)
Stereotypical hand wringing	Noen ganger (5–29 %)
Sudden loss of muscle tone	Noen ganger (5–29 %)
Typical absence seizure	Noen ganger (5–29 %)
Underdevelopment of part of brain called corpus callosum	Noen ganger (5–29 %)
EEG with irregular generalized spike and wave complexes	Sjelden (1–4%)
Epileptic encephalopathy	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Decreased muscle tone in infant	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)
Difficulty in standing	Noen ganger (5–29 %)
Frequent falls	Noen ganger (5–29 %)
Low muscle tone in trunk	Noen ganger (5–29 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Drooling	Ofte (30–79 %)
Small head present at birth	Ofte (30–79 %)
Abnormal facial shape	Noen ganger (5–29 %)
Development of small head that was not present at birth	Noen ganger (5–29 %)
Short nose	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Short stature	Ofte (30–79 %)
Small for gestational age	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
High-arched foot	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Abnormal involuntary eye movements	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Autoimmune antibody positivity	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Laryngospasm	Ofte (30–79 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Nasal speech	Noen ganger (5–29 %)

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 GRIN2A og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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