Egenskaper

Egenskaper kopplade till GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A

Human Phenotype Ontology kopplar 107 egenskaper till GRIN2A, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Decreased muscle tone in infant	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Poor head control	Ofta (30–79 %)
Difficulty in standing	Ibland (5–29 %)
Frequent falls	Ibland (5–29 %)
Low muscle tone in trunk	Ibland (5–29 %)
Spasticity and rigidity of muscles	Ibland (5–29 %)

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Drooling	Ofta (30–79 %)
Small head present at birth	Ofta (30–79 %)
Abnormal facial shape	Ibland (5–29 %)
Development of small head that was not present at birth	Ibland (5–29 %)
Short nose	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Short stature	Ofta (30–79 %)
Small for gestational age	Ibland (5–29 %)

Abnormality of limbs

Egenskap	Hur ofta den förekommer
High-arched foot	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Abnormal involuntary eye movements	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Autoimmune antibody positivity	Sällan (1–4%)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Laryngospasm	Ofta (30–79 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Nasal speech	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till GRIN2A och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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