Traits

Traits linked to CHD2

chromodomain helicase DNA binding protein 2

The Human Phenotype Ontology links 71 traits to CHD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Generalized myoclonic seizure	Always
Global developmental delay	Always
Intellectual disability	Always
Loss of developmental milestones	Always
EEG with focal sharp slow waves	Very often (80–99%)
EEG with focal spike waves	Very often (80–99%)
Encephalopathy	Very often (80–99%)
Generalized myoclonic-atonic seizure	Very often (80–99%)
Grand mal seizures	Very often (80–99%)
Abnormal shape of brainstem	Often (30–79%)
Aggressive behavior	Often (30–79%)
Attention deficit	Often (30–79%)
Atypical absence seizure	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Often (30–79%)
Brief seizures with staring spells	Often (30–79%)
EEG abnormality	Often (30–79%)
EEG with generalized polyspikes	Often (30–79%)
EEG with generalized spikes	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
Falls	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Irritability	Often (30–79%)
Jerking	Often (30–79%)
Lack of peer relationships	Often (30–79%)
Mental deterioration	Often (30–79%)
More active than typical	Often (30–79%)
Multifocal epileptiform discharges	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Personality disorder	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Status epilepticus without prominent motor symptoms	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Tonic seizure	Often (30–79%)
Visually-induced seizure	Often (30–79%)
Abnormal emotional state	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Brain imaging abnormality	Sometimes (5–29%)
EEG with generalized slow activity	Sometimes (5–29%)
EEG with irregular generalized spike and wave complexes	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Interictal epileptiform activity	Sometimes (5–29%)
Lack of feeling, emotion, interest	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Simple febrile seizure	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Abnormal pyramidal sign	Rarely (1–4%)
Delayed speech and language development	Rarely (1–4%)
Epileptic encephalopathy	Rarely (1–4%)
Unsteady walk	Rarely (1–4%)
Epileptic spasm	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Rarely (1–4%)
Abnormally small head	Rarely (1–4%)
Broad philtrum	Rarely (1–4%)
Full lower lip	Rarely (1–4%)
Long philtrum	Rarely (1–4%)
Nasal tip, upturned	Rarely (1–4%)
Prominent forehead	Rarely (1–4%)
Thick nasal alae	Rarely (1–4%)
Thin red part of the upper lip	Rarely (1–4%)
Wide mouth	Rarely (1–4%)
Wide nasal bridge	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Frontal balding	Rarely (1–4%)
Premature skin wrinkling	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Webbed fingers or toes	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CHD2 and how often each is seen. Find out more at hpo.jax.org.

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