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Traits

Traits linked to MCEE

methylmalonyl-CoA epimerase

The Human Phenotype Ontology links 9 traits to MCEE, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHow often it is seen
DehydrationAlways
Elevated circulating palmitoleylcarnitine concentrationAlways
KetonuriaAlways
Metabolic acidosisAlways
Methylmalonic aciduriaAlways

Abnormality of the digestive system

TraitHow often it is seen
Acid refluxAlways

Abnormality of the musculoskeletal system

TraitHow often it is seen
Involuntary muscle stiffness, contraction, or spasmAlways

Abnormality of the nervous system

TraitHow often it is seen
Motor delayAlways

Growth abnormality

TraitHow often it is seen
Faltering weightAlways

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

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