Tunnused

Geeniga GRIN2A seotud tunnused

glutamate ionotropic receptor NMDA type subunit 2A

Inimese fenotüübi ontoloogia seostab geeniga GRIN2A 107 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Decreased muscle tone in infant	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Poor head control	Sageli (30–79%)
Difficulty in standing	Mõnikord (5–29%)
Frequent falls	Mõnikord (5–29%)
Low muscle tone in trunk	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Drooling	Sageli (30–79%)
Small head present at birth	Sageli (30–79%)
Abnormal facial shape	Mõnikord (5–29%)
Development of small head that was not present at birth	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Sageli (30–79%)
Small for gestational age	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
High-arched foot	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormal involuntary eye movements	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Autoimmune antibody positivity	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Laryngospasm	Sageli (30–79%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Nasal speech	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga GRIN2A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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