Trăsături

Trăsături asociate cu CHD2

chromodomain helicase DNA binding protein 2

Human Phenotype Ontology asociază 71 trăsături cu CHD2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Generalized myoclonic seizure	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Loss of developmental milestones	Întotdeauna
EEG with focal sharp slow waves	Foarte des (80–99%)
EEG with focal spike waves	Foarte des (80–99%)
Encephalopathy	Foarte des (80–99%)
Generalized myoclonic-atonic seizure	Foarte des (80–99%)
Grand mal seizures	Foarte des (80–99%)
Abnormal shape of brainstem	Des (30–79%)
Aggressive behavior	Des (30–79%)
Attention deficit	Des (30–79%)
Atypical absence seizure	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Des (30–79%)
Brief seizures with staring spells	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with generalized polyspikes	Des (30–79%)
EEG with generalized spikes	Des (30–79%)
EEG with polyspike wave complexes	Des (30–79%)
Falls	Des (30–79%)
Generalized tonic seizure	Des (30–79%)
Irritability	Des (30–79%)
Jerking	Des (30–79%)
Lack of peer relationships	Des (30–79%)
Mental deterioration	Des (30–79%)
More active than typical	Des (30–79%)
Multifocal epileptiform discharges	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Personality disorder	Des (30–79%)
Repeated seizures without recovery between them	Des (30–79%)
Status epilepticus without prominent motor symptoms	Des (30–79%)
Sudden loss of muscle tone	Des (30–79%)
Tonic seizure	Des (30–79%)
Visually-induced seizure	Des (30–79%)
Abnormal emotional state	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Brain imaging abnormality	Uneori (5–29%)
EEG with generalized slow activity	Uneori (5–29%)
EEG with irregular generalized spike and wave complexes	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Interictal epileptiform activity	Uneori (5–29%)
Lack of feeling, emotion, interest	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Simple febrile seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Abnormal pyramidal sign	Rar (1–4%)
Delayed speech and language development	Rar (1–4%)
Epileptic encephalopathy	Rar (1–4%)
Unsteady walk	Rar (1–4%)
Epileptic spasm	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Rar (1–4%)
Abnormally small head	Rar (1–4%)
Broad philtrum	Rar (1–4%)
Full lower lip	Rar (1–4%)
Long philtrum	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Prominent forehead	Rar (1–4%)
Thick nasal alae	Rar (1–4%)
Thin red part of the upper lip	Rar (1–4%)
Wide mouth	Rar (1–4%)
Wide nasal bridge	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Frontal balding	Rar (1–4%)
Premature skin wrinkling	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Webbed fingers or toes	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CHD2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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