Traits

Traits linked to CAPN3

calpain 3

The Human Phenotype Ontology links 35 traits to CAPN3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle eosinophilia	Always
Generalized muscle weakness	Very often (80–99%)
Flexed joint that cannot be straightened	Often (30–79%)
Hamstring contractures	Often (30–79%)
Muscular dystrophy	Often (30–79%)
Prominent swayback	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Reduced spine movement	Often (30–79%)
Wasting of pec muscles	Often (30–79%)
Difficulty walking up stairs	Sometimes (5–29%)
Abdominal wall muscle weakness	Not recorded
Back pain	Not recorded
Centrally nucleated skeletal muscle fibers	Not recorded
Fatty replacement of skeletal muscle	Not recorded
Increased variability in muscle fiber diameter	Not recorded
Muscle fiber splitting	Not recorded
Muscle tissue disease	Not recorded
Wasting of muscles near the body	Not recorded

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Often (30–79%)
Congenital finger flexion contractures	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Increased size of calf muscles	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Pelvic girdle amyotrophy	Often (30–79%)
Scapular muscle atrophy	Often (30–79%)
Winged shoulder blade	Often (30–79%)
Wrist flexion contracture	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Clumsiness	Often (30–79%)
Toe walking	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
High blood eosinophil count	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Muscle inflammation	Not recorded

Constitutional symptom

Trait	How often it is seen
Muscle ache	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always

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 CAPN3 and how often each is seen. Find out more at hpo.jax.org.

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