Traits

Traits linked to SGCE

sarcoglycan epsilon

The Human Phenotype Ontology links 20 traits to SGCE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Depression	Always
Jerking	Always
Limb myoclonus	Always
Dystonia	Very often (80–99%)
Spinal myoclonus	Very often (80–99%)
Anxiety	Often (30–79%)
Arm dystonia	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Panic attack	Often (30–79%)
Personality disorder	Often (30–79%)
Writer's cramp	Often (30–79%)
Addictive alcohol use	Sometimes (5–29%)
Axial dystonia	Sometimes (5–29%)
Leg dystonia	Sometimes (5–29%)
Fear of open spaces	Not recorded
Tremor	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased CSF 5-hydroxyindoleacetic acid concentration	Always
Decreased CSF homovanillic acid concentration	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Wry neck	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

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

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