Traits

Traits linked to GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

The Human Phenotype Ontology links 107 traits to GRIN2A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)
Difficulty in standing	Kartais (5–29%)
Frequent falls	Kartais (5–29%)
Low muscle tone in trunk	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Drooling	Dažnai (30–79%)
Small head present at birth	Dažnai (30–79%)
Abnormal facial shape	Kartais (5–29%)
Development of small head that was not present at birth	Kartais (5–29%)
Short nose	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)
Small for gestational age	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
High-arched foot	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormal involuntary eye movements	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Autoimmune antibody positivity	Retai (1–4 %)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Laryngospasm	Dažnai (30–79%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Nasal speech	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GRIN2A and how often each is seen. Find out more at hpo.jax.org.

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