Traits

Traits linked to PDHB

pyruvate dehydrogenase E1 subunit beta

The Human Phenotype Ontology links 27 traits to PDHB, 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	Often (30–79%)
Decreased reflex response	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Ataxia	Sometimes (5–29%)
Corticospinal tract hypoplasia	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Periventricular cysts	Sometimes (5–29%)
Periventricular heterotopia	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Short corpus callosum	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Abnormality of cranium	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	Always
High blood ammonia levels	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of the pyruvate dehydrogenase complex	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Impaired smooth pursuit	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 PDHB and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test