Traits

Traits linked to DNAJB6

DnaJ heat shock protein family (Hsp40) member B6

The Human Phenotype Ontology links 26 traits to DNAJB6, 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
Rimmed vacuoles	Always
Generalized muscle weakness	Very often (80–99%)
Difficulty walking up stairs	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Bulbar palsy	Sometimes (5–29%)
Difficulty running	Sometimes (5–29%)
Fatty replacement of skeletal muscle	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Gowers sign	Sometimes (5–29%)
Myofibrillar myopathy	Sometimes (5–29%)
Skeletal muscle fibrosis	Sometimes (5–29%)
Abnormal muscle fiber morphology	Rarely (1–4%)
Percussion myotonia	Rarely (1–4%)
Muscle fiber splitting	Not recorded
Muscular dystrophy	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased compound muscle action potential amplitude	Always
Difficulty articulating speech	Often (30–79%)
Loss of ability to walk	Often (30–79%)
Waddling gait	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Pelvic girdle muscle weakness	Not recorded
Weak shoulder muscles	Not recorded

Abnormality of head or neck

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

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Not 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 DNAJB6 and how often each is seen. Find out more at hpo.jax.org.

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