Traits

Traits linked to PMP2

peripheral myelin protein 2

The Human Phenotype Ontology links 18 traits to PMP2, 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
Decreased compound muscle action potential amplitude	Always
Decreased sensation in extremities	Always
Impaired distal vibration sensation	Always
Impaired pain sensation	Always
Onion bulb formation	Always
Peripheral demyelination	Always
Hand tremor	Often (30–79%)
Abnormal gait	Not recorded
High stepping	Not recorded

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Always
Hammertoe	Always
High-arched foot	Always
Absent ankle reflexes	Often (30–79%)
Absent knee jerk reflex	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Fatty replacement of skeletal muscle	Always
Weakness of outermost muscles	Always
Frequent falls	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 PMP2 and how often each is seen. Find out more at hpo.jax.org.

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