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

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Decreased muscle tone in infant	Spesso (30–79%)
Low muscle tone	Spesso (30–79%)
Poor head control	Spesso (30–79%)
Difficulty in standing	A volte (5–29%)
Frequent falls	A volte (5–29%)
Low muscle tone in trunk	A volte (5–29%)
Spasticity and rigidity of muscles	A volte (5–29%)

Abnormality of head or neck

Trait	Frequenza di osservazione
Drooling	Spesso (30–79%)
Small head present at birth	Spesso (30–79%)
Abnormal facial shape	A volte (5–29%)
Development of small head that was not present at birth	A volte (5–29%)
Short nose	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Short stature	Spesso (30–79%)
Small for gestational age	A volte (5–29%)

Abnormality of limbs

Trait	Frequenza di osservazione
High-arched foot	A volte (5–29%)

Abnormality of the eye

Trait	Frequenza di osservazione
Abnormal involuntary eye movements	A volte (5–29%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Autoimmune antibody positivity	Raramente (1–4%)

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Laryngospasm	Spesso (30–79%)

Abnormality of the voice

Trait	Frequenza di osservazione
Nasal speech	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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