Traits

Traits linked to PDHX

pyruvate dehydrogenase complex component X

The Human Phenotype Ontology links 44 traits to PDHX, 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
Abnormal corpus callosum morphology	Often (30–79%)
Epilepsy	Often (30–79%)
Tetraparesis	Often (30–79%)
Abnormal basal ganglia morphology	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Periventricular cysts	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Abnormal shape of brainstem	Rarely (1–4%)
Abnormality of the cerebellum	Rarely (1–4%)
Degeneration of cerebrum	Rarely (1–4%)
Ataxia	Not recorded
Dystonia	Not recorded
Intellectual disability	Not recorded
Partial agenesis of the corpus callosum	Not recorded
Poor fine motor coordination	Not recorded
Poor gross motor coordination	Not recorded
Subependymal cysts	Not recorded
Unsteady walk	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal CSF pyruvate family amino acid concentration	Very often (80–99%)
Higher than normal levels of lactate in blood	Very often (80–99%)
Increased CSF lactate	Very often (80–99%)
Abnormal circulating pyruvate family amino acid concentration	Often (30–79%)
Increased lactate in body	Often (30–79%)
Increased blood alanine	Not recorded
Increased circulating pyruvate concentration	Not recorded
Metabolic acidosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic diplegia	Often (30–79%)
Low muscle tone in trunk	Sometimes (5–29%)
Funnel chest	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Spastic paraplegia	Not recorded
Spastic tetraplegia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Eye folds	Not recorded
High palate	Not recorded
Triangular head shape	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormality of eye movement	Not recorded
Optic atrophy	Not recorded
Wide-set eyes	Not recorded

Abnormal cellular phenotype

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

Growth abnormality

Trait	How often it is seen
Faltering weight	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 PDHX and how often each is seen. Find out more at hpo.jax.org.

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