Traits

Traits linked to CHD5

chromodomain helicase DNA binding protein 5

The Human Phenotype Ontology links 24 traits to CHD5, 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
Delayed speech and language development	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Skin-picking	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Deformity of the skull	Often (30–79%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Prominent nasal tip	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 CHD5 and how often each is seen. Find out more at hpo.jax.org.

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