Traits

Traits linked to MGME1

mitochondrial genome maintenance exonuclease 1

The Human Phenotype Ontology links 39 traits to MGME1, by body system: features seen in people with one of the gene's rare conditions.

MGME1

Abnormality of the musculoskeletal system

Trait	How often it is seen
Ragged-red muscle fibers	Always
Diffuse skeletal muscle wasting	Very often (80–99%)
Hunched back	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Neuropathic spinal arthropathy	Often (30–79%)
Reduced spine movement	Often (30–79%)
Tired easily	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Wasting of muscles near the body	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Often (30–79%)
Nausea	Often (30–79%)
Poor swallowing	Often (30–79%)
Poor appetite	Sometimes (5–29%)
Diarrhea	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Multiple mitochondrial DNA deletions	Always
Decreased activity of mitochondrial complex IV	Often (30–79%)
Decreased mitochondrial number	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Bell's palsy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Progressive external ophthalmoplegia	Always
Drooping upper eyelid	Often (30–79%)
Double vision	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Degeneration of cerebellum	Always
Decreased reflex response	Often (30–79%)
Intellectual disability	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)
Respiratory failure	Often (30–79%)
Respiratory function loss	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Stretched and thinned heart muscle	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)
Nasal speech	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Hypergonadotropic hypogonadism	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 MGME1 and how often each is seen. Find out more at hpo.jax.org.

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