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

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Low muscle tone	Des (30–79%)
Poor head control	Des (30–79%)
Difficulty in standing	Uneori (5–29%)
Frequent falls	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Drooling	Des (30–79%)
Small head present at birth	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Development of small head that was not present at birth	Uneori (5–29%)
Short nose	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Des (30–79%)
Small for gestational age	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
High-arched foot	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormal involuntary eye movements	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Autoimmune antibody positivity	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Laryngospasm	Des (30–79%)

Abnormality of the voice

Trait	Cât de frecvent apare
Nasal speech	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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