Traits

Traits linked to MIEF2

mitochondrial elongation factor 2

The Human Phenotype Ontology links 12 traits to MIEF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex II	Always
Decreased activity of mitochondrial complex III	Always
Decreased activity of mitochondrial complex IV	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always
Difficulty walking up stairs	Always
Progressive muscle weakness	Always
Ragged-red muscle fibers	Always

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always
Muscle ache	Always

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always

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 MIEF2 and how often each is seen. Find out more at hpo.jax.org.

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