Traits

Traits linked to HIBCH

3-hydroxyisobutyryl-CoA hydrolase

The Human Phenotype Ontology links 41 traits to HIBCH, 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
Agenesis of corpus callosum	Always
Ataxia	Always
Head titubation	Always
Instability or lack of coordination of central trunk muscles	Always
Irritability	Always
Lack of coordination of movement	Always
Lethargy	Always
Loss of developmental milestones	Always
Motor delay	Always
Dystonia	Very often (80–99%)
Worsening neurological symptoms	Very often (80–99%)
Aplasia/Hypoplasia of the corpus callosum	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Increased reflexes	Often (30–79%)
Infantile spasms	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Encephalopathy	Sometimes (5–29%)
Leukoencephalopathy	Sometimes (5–29%)
Small basal ganglia	Sometimes (5–29%)
Global developmental delay	Not recorded
Jerking	Not recorded

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Often (30–79%)
Metabolic acidosis	Often (30–79%)
Abnormal urinary amino-acid findings	Not recorded
Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Abnormal vertebral morphology	Often (30–79%)
Abnormality of the vertebral column	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Often (30–79%)
Facial shape deformation	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Vomiting	Very often (80–99%)
Feeding difficulties	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Cross-eyed	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of mitochondrial metabolism	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Tetralogy of Fallot	Always

Abnormality of the genitourinary system

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

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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

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