Traits

Traits linked to DMGDH

dimethylglycine dehydrogenase

The Human Phenotype Ontology links 7 traits to DMGDH, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Elevated blood creatine phosphokinase	Very often (80–99%)
Laboratory abnormality	Very often (80–99%)
Elevated circulating N,N-dimethylglycine concentration	Not recorded
Elevated urinary N,N-dimethylglycine level	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased muscle fatiguability	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Fish odor	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 DMGDH and how often each is seen. Find out more at hpo.jax.org.

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