Tunnused

Geeniga CHD2 seotud tunnused

chromodomain helicase DNA binding protein 2

Inimese fenotüübi ontoloogia seostab geeniga CHD2 71 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormal facial shape	Harva (1–4%)
Abnormally small head	Harva (1–4%)
Broad philtrum	Harva (1–4%)
Full lower lip	Harva (1–4%)
Long philtrum	Harva (1–4%)
Nasal tip, upturned	Harva (1–4%)
Prominent forehead	Harva (1–4%)
Thick nasal alae	Harva (1–4%)
Thin red part of the upper lip	Harva (1–4%)
Wide mouth	Harva (1–4%)
Wide nasal bridge	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Frontal balding	Harva (1–4%)
Premature skin wrinkling	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Webbed fingers or toes	Harva (1–4%)

Abnormality of the ear

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Harva (1–4%)

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 CHD2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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