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Traits

Traits linked to POPDC3

popeye domain cAMP effector 3

The Human Phenotype Ontology links 9 traits to POPDC3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

TraitHow often it is seen
Difficulty runningNot recorded
Fatty replacement of skeletal muscleNot recorded
Increased variability in muscle fiber diameterNot recorded
Muscle fiber necrosisNot recorded
Proximal neurogenic muscle weaknessNot recorded

Abnormality of limbs

TraitHow often it is seen
Increased size of calf musclesNot recorded
Proximal lower limb muscle weaknessNot recorded

Abnormality of the nervous system

TraitHow often it is seen
FallsNot recorded

Laboratory abnormality

TraitHow often it is seen
Highly elevated creatine kinaseNot recorded

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 POPDC3 and how often each is seen. Find out more at hpo.jax.org.

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