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	Hvor ofte det ses
Continuous spike and waves during slow sleep	Meget ofte (80–99 %)
Delayed speech and language development	Meget ofte (80–99 %)
Difficulty finding words	Meget ofte (80–99 %)
EEG with centrotemporal focal spike waves	Meget ofte (80–99 %)
Epilepsy	Meget ofte (80–99 %)
Interictal EEG abnormality	Meget ofte (80–99 %)
Interictal epileptiform activity	Meget ofte (80–99 %)
Language impairment	Meget ofte (80–99 %)
Loss of speech	Meget ofte (80–99 %)
Speech apraxia	Meget ofte (80–99 %)
Spoken word recognition deficit	Meget 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	Nogle gange (5–29 %)
Abnormal prosody	Nogle gange (5–29 %)
Abnormally low-pitched voice	Nogle gange (5–29 %)
Aggressive behavior	Nogle gange (5–29 %)
Anxiety	Nogle gange (5–29 %)
Can't control feelings	Nogle gange (5–29 %)
Clumsiness	Nogle gange (5–29 %)
Decreased reflex response	Nogle gange (5–29 %)
Depression	Nogle gange (5–29 %)
Difficulty articulating speech	Nogle gange (5–29 %)
Difficulty sleeping	Nogle gange (5–29 %)
Diffuse cerebral atrophy	Nogle gange (5–29 %)
Dysesthesia	Nogle gange (5–29 %)
Dystonia	Nogle gange (5–29 %)
EEG with generalized polyspikes	Nogle gange (5–29 %)
Epileptic spasm	Nogle gange (5–29 %)
Febrile seizure (within the age range of 3 months to 6 years)	Nogle gange (5–29 %)
Focal clonic seizure	Nogle gange (5–29 %)
Focal myoclonic seizure	Nogle gange (5–29 %)
Generalized clonic seizure	Nogle gange (5–29 %)
Generalized tonic seizure	Nogle gange (5–29 %)
High stepping	Nogle gange (5–29 %)
Hyperactive movements	Nogle gange (5–29 %)
Impulsivity	Nogle gange (5–29 %)
Inability to coordinate movements when walking	Nogle gange (5–29 %)
Inability to speak	Nogle gange (5–29 %)
Incomprehensible speech	Nogle gange (5–29 %)
Intellectual disability, borderline	Nogle gange (5–29 %)
IQ between 34 and 49	Nogle gange (5–29 %)
Jerking	Nogle gange (5–29 %)
Memory impairment	Nogle gange (5–29 %)
Migraine	Nogle gange (5–29 %)
More active than typical	Nogle gange (5–29 %)
Myoclonic absence seizure	Nogle gange (5–29 %)
Nocturnal seizures	Nogle gange (5–29 %)
Non-convulsive status epilepticus without coma	Nogle gange (5–29 %)
Pins and needles feeling	Nogle gange (5–29 %)
Progressive degeneration of movement	Nogle gange (5–29 %)
Psychotic mentation	Nogle gange (5–29 %)
Short attention span	Nogle gange (5–29 %)
Slurred speech	Nogle gange (5–29 %)
Stereotypical hand wringing	Nogle gange (5–29 %)
Sudden loss of muscle tone	Nogle gange (5–29 %)
Typical absence seizure	Nogle gange (5–29 %)
Underdevelopment of part of brain called corpus callosum	Nogle gange (5–29 %)
EEG with irregular generalized spike and wave complexes	Sjældent (1–4%)
Epileptic encephalopathy	Sjældent (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Decreased muscle tone in infant	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)
Difficulty in standing	Nogle gange (5–29 %)
Frequent falls	Nogle gange (5–29 %)
Low muscle tone in trunk	Nogle gange (5–29 %)
Spasticity and rigidity of muscles	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Drooling	Ofte (30–79 %)
Small head present at birth	Ofte (30–79 %)
Abnormal facial shape	Nogle gange (5–29 %)
Development of small head that was not present at birth	Nogle gange (5–29 %)
Short nose	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Short stature	Ofte (30–79 %)
Small for gestational age	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
High-arched foot	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Abnormal involuntary eye movements	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Autoimmune antibody positivity	Sjældent (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Laryngospasm	Ofte (30–79 %)

Abnormality of the voice

Trait	Hvor ofte det ses
Nasal speech	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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