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

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Decreased muscle tone in infant	Usein (30–79%)
Low muscle tone	Usein (30–79%)
Poor head control	Usein (30–79%)
Difficulty in standing	Joskus (5–29%)
Frequent falls	Joskus (5–29%)
Low muscle tone in trunk	Joskus (5–29%)
Spasticity and rigidity of muscles	Joskus (5–29%)

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Drooling	Usein (30–79%)
Small head present at birth	Usein (30–79%)
Abnormal facial shape	Joskus (5–29%)
Development of small head that was not present at birth	Joskus (5–29%)
Short nose	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Short stature	Usein (30–79%)
Small for gestational age	Joskus (5–29%)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
High-arched foot	Joskus (5–29%)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Abnormal involuntary eye movements	Joskus (5–29%)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Autoimmune antibody positivity	Harvinainen (1–4 %)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Laryngospasm	Usein (30–79%)

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Nasal speech	Joskus (5–29%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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