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Traits
Traits linked to SGCB
sarcoglycan beta
The Human Phenotype Ontology links 22 traits to SGCB, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Increased size of calf muscles | Often (30–79%) |
| Pelvic girdle muscle weakness | Often (30–79%) |
| Calf muscle pseudohypertrophy | Sometimes (5–29%) |
| Limb-girdle muscle weakness | Not recorded |
| Pelvic girdle muscle atrophy | Not recorded |
| Shoulder girdle muscle wasting | Not recorded |
| Winged shoulder blade | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Gowers sign | Often (30–79%) |
| Increased variability in muscle fiber diameter | Often (30–79%) |
| Muscle tissue disease | Often (30–79%) |
| Muscular dystrophy | Not recorded |
| Wasting of muscles near the body | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Loss of ability to walk | Always |
| Abnormal gait | Often (30–79%) |
| Delayed speech and language development | Often (30–79%) |
| Waddling gait | Often (30–79%) |
| Wide based walk | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Disease of the heart muscle | Sometimes (5–29%) |
| Stretched and thinned heart muscle | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated blood creatine phosphokinase | Always |
| Myoglobinuria | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Myopathic facies | 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 SGCB and how often each is seen. Find out more at hpo.jax.org.
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