Traits

Traits linked to DUX4

double homeobox 4

The Human Phenotype Ontology links 37 traits to DUX4, 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 degeneration	Very often (80–99%)
Progressive muscle weakness	Very often (80–99%)
Prominent swayback	Very often (80–99%)
Abdominal wall muscle weakness	Often (30–79%)
Beevor's sign	Often (30–79%)
Camptocormia	Often (30–79%)
EMG: myopathic abnormalities	Often (30–79%)
Frequent falls	Often (30–79%)
Funnel chest	Often (30–79%)
Scoliosis	Often (30–79%)
Straight collarbone	Often (30–79%)
Wasting of pec muscles	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Expressionless face	Very often (80–99%)
Decreased facial expression	Often (30–79%)
Eyelids stay open at night	Often (30–79%)
Pink eye	Often (30–79%)
Weakness of facial musculature	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Winged shoulder blade	Very often (80–99%)
Distal upper limb muscle weakness	Often (30–79%)
Foot drop	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Corneal inflammation	Often (30–79%)
Retinal detachment	Sometimes (5–29%)
Serous retinal detachment	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Often (30–79%)
Complete right bundle branch block	Often (30–79%)
Supraventricular arrhythmia	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
High stepping	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Often (30–79%)
Respiratory function loss	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chronic pain	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Very often (80–99%)

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 DUX4 and how often each is seen. Find out more at hpo.jax.org.

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