Traits

Traits linked to PDK3

pyruvate dehydrogenase kinase 3

The Human Phenotype Ontology links 21 traits to PDK3, 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
High stepping	Always
Abnormal gait	Very often (80–99%)
Decreased nerve conduction velocity	Very often (80–99%)
Decreased sensation in extremities	Very often (80–99%)
Hand tremor	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Impaired vibration sensation in the lower limbs	Often (30–79%)
Impaired distal vibration sensation	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Peripheral neuropathy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Hand muscle weakness	Always
Absent ankle reflexes	Very often (80–99%)
High-arched foot	Very often (80–99%)
Lower limb muscle weakness	Very often (80–99%)
Intrinsic hand muscle atrophy	Often (30–79%)
Thenar muscle atrophy	Often (30–79%)
Decreased Achilles reflex	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal lower limb amyotrophy	Very often (80–99%)
EMG: axonal abnormality	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)

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 PDK3 and how often each is seen. Find out more at hpo.jax.org.

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