Traits

Traits linked to ACADSB

acyl-CoA dehydrogenase short/branched chain

The Human Phenotype Ontology links 16 traits to ACADSB, 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
Motor delay	Always
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Autism	Rarely (1–4%)
Delayed speech and language development	Rarely (1–4%)
Lethargy	Not recorded

Laboratory abnormality

Trait	How often it is seen
2-ethylhydracylic aciduria	Always
Elevated circulating C5 acylcarnitine concentration	Often (30–79%)
Hypothermia	Not recorded
Low blood sugar	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Diffuse skeletal muscle wasting	Always
Low muscle tone	Always

Abnormality of head or neck

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

Abnormality of the eye

Trait	How often it is seen
Outward facing eye ball	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Apneic episodes in infancy	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Sometimes (5–29%)

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

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