Özellikler

GRIN2A ile ilişkili özellikler

glutamate ionotropic receptor NMDA type subunit 2A

Human Phenotype Ontology, GRIN2A ile ilişkili 107 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Decreased muscle tone in infant	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Poor head control	Sık (%30–79)
Difficulty in standing	Bazen (%5–29)
Frequent falls	Bazen (%5–29)
Low muscle tone in trunk	Bazen (%5–29)
Spasticity and rigidity of muscles	Bazen (%5–29)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Drooling	Sık (%30–79)
Small head present at birth	Sık (%30–79)
Abnormal facial shape	Bazen (%5–29)
Development of small head that was not present at birth	Bazen (%5–29)
Short nose	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Short stature	Sık (%30–79)
Small for gestational age	Bazen (%5–29)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
High-arched foot	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Abnormal involuntary eye movements	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Autoimmune antibody positivity	Seyrek (%1–4)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Laryngospasm	Sık (%30–79)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Nasal speech	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: GRIN2A ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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