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Traits

Traits linked to BCKDHB

branched chain keto acid dehydrogenase E1 subunit beta

The Human Phenotype Ontology links 7 traits to BCKDHB, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHow often it is seen
High blood isoleucine concentrationAlways
High blood leucine concentrationAlways
High blood valine concentrationAlways

Abnormality of the nervous system

TraitHow often it is seen
EpilepsyAlways
LethargyAlways

Abnormality of the digestive system

TraitHow often it is seen
Feeding difficultiesAlways

Abnormality of the musculoskeletal system

TraitHow often it is seen
OpisthotonusAlways

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

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