Kenmerken

Kenmerken gekoppeld aan GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

De Human Phenotype Ontology koppelt 107 kenmerken aan GRIN2A, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Decreased muscle tone in infant	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Poor head control	Vaak (30–79%)
Difficulty in standing	Soms (5–29%)
Frequent falls	Soms (5–29%)
Low muscle tone in trunk	Soms (5–29%)
Spasticity and rigidity of muscles	Soms (5–29%)

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Drooling	Vaak (30–79%)
Small head present at birth	Vaak (30–79%)
Abnormal facial shape	Soms (5–29%)
Development of small head that was not present at birth	Soms (5–29%)
Short nose	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Short stature	Vaak (30–79%)
Small for gestational age	Soms (5–29%)

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
High-arched foot	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Abnormal involuntary eye movements	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Autoimmune antibody positivity	Zelden (1–4%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Laryngospasm	Vaak (30–79%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Nasal speech	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan GRIN2A gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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