Traits

Traits linked to FRG1

FSHD region gene 1

The Human Phenotype Ontology links 50 traits to FRG1, 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%)
Scapulohumeral muscular dystrophy	Not recorded

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%)
Bell's palsy	Not recorded
Inability to protrude lips	Not recorded
Inability to puff cheeks	Not recorded
Transverse smile	Not recorded
Wasting of the tongue	Not recorded

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%)
Increased size of calf muscles	Not recorded
Shoulder girdle muscle wasting	Not recorded
Weak shoulder muscles	Not recorded

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%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Not recorded

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%)
Retinal telangiectasia	Not recorded

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%)
Intellectual disability	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Often (30–79%)
Poor swallowing	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 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 FRG1 and how often each is seen. Find out more at hpo.jax.org.

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