Traits

Traits linked to TUFM

Tu translation elongation factor, mitochondrial

The Human Phenotype Ontology links 16 traits to TUFM, 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
Encephalopathy	Not recorded
Leukodystrophy	Not recorded
Loss of developmental milestones	Not recorded
More grooves in brain	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood ammonia levels	Not recorded
Higher than normal levels of lactate in blood	Not recorded
Increased lactate in body	Not recorded
Metabolic acidosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Opisthotonus	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Not recorded

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

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