Traits

Traits linked to SGCD

sarcoglycan delta

The Human Phenotype Ontology links 32 traits to SGCD, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Always
Increased left ventricular end-diastolic volume	Always
Reduced left ventricular ejection fraction	Always
Left ventricular systolic dysfunction	Very often (80–99%)
Stretched and thinned heart muscle	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Sudden cardiac death	Often (30–79%)
Reduced systolic function	Not recorded
Ventricular hypertrophy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Difficulty walking up stairs	Always
Proximal neurogenic muscle weakness	Always
Wasting of muscles near the body	Always
Generalized muscle wasting	Often (30–79%)
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Gowers sign	Not recorded
Muscular dystrophy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Winged shoulder blade	Always
Proximal upper limb amyotrophy	Often (30–79%)
Wasting of thigh muscle	Often (30–79%)
Increased size of calf muscles	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Shuffled walk	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Fluid retention	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Constitutional symptom

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

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

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