Traits

Traits linked to CHD8

chromodomain helicase DNA binding protein 8

The Human Phenotype Ontology links 91 traits to CHD8, by body system: features seen in people with one of the gene's rare conditions.

CHD8

Abnormality of the nervous system

Trait	How often it is seen
Clumsiness	Always
Difficulty sleeping	Always
Echoing another person's speech	Always
Global developmental delay	Always
Intellectual disability	Always
Late chronotype	Always
Pica	Always
Pronoun reversal	Always
Recurrent hand flapping	Always
Reduced production of gestures	Always
Short attention span	Always
Stereotypic upper-extremity movements	Always
Delayed speech and language development	Very often (80–99%)
Limb dystonia	Very often (80–99%)
Motor delay	Very often (80–99%)
Neurodevelopmental delay	Very often (80–99%)
Stereotypical hand wringing	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Autism	Often (30–79%)
Cerebellar vermis atrophy	Often (30–79%)
Difficulty falling asleep	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized dystonia	Often (30–79%)
Increased appetite	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Poor social interactions	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Writer's cramp	Often (30–79%)
Cerebral palsy	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Intellectual disability, borderline	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Slurred speech	Sometimes (5–29%)
Tic disorder	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
IQ less than 20	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Broad forehead	Always
Long philtrum	Always
Open mouth	Always
Pointed chin	Always
Smooth philtrum	Always
Wide nasal bridge	Always
Wide nose	Always
Abnormally small head	Often (30–79%)
Big calvaria	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Prominent brow	Often (30–79%)
Tall chin	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Abdominal bloating	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Inflammation of the large intestine	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Wide-set eyes	Often (30–79%)
Heterotropia	Sometimes (5–29%)
Horizontal nystagmus	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Sometimes (5–29%)
Darkened and thickened skin	Sometimes (5–29%)
Stretch marks	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Hunched back	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Often (30–79%)
Tall stature	Often (30–79%)
Overweight	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Large ears	Often (30–79%)

Abnormality of the endocrine system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Large testis	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High blood bilirubin levels	Often (30–79%)

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 CHD8 and how often each is seen. Find out more at hpo.jax.org.

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