Traits

Traits linked to TSFM

Ts translation elongation factor, mitochondrial

The Human Phenotype Ontology links 40 traits to TSFM, 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	Often (30–79%)
Grand mal seizures	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Ataxia	Not recorded
Cognitive impairment	Not recorded
Dystonia	Not recorded
Epilepsy	Not recorded
Global developmental delay	Not recorded
Tremor	Not recorded

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Severe lactic acidosis	Always
Elevated blood creatine phosphokinase	Often (30–79%)
Elevated lactate:pyruvate ratio	Often (30–79%)
High blood ammonia levels	Often (30–79%)
Low blood sodium levels	Often (30–79%)
Increased lactate in body	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Low muscle tone, in neonatal onset	Always
Breakdown of skeletal muscle	Often (30–79%)
Generalized decreased muscle tone	Not recorded
Muscle weakness	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Concentric hypertrophic cardiomyopathy	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Stretched and thinned heart muscle	Sometimes (5–29%)

Abnormal cellular phenotype

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

Abnormality of the digestive system

Trait	How often it is seen
Poor suck	Often (30–79%)
Enlarged liver	Not recorded
Feeding difficulties in infancy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Damaged optic nerve	Not recorded
Optic atrophy	Not recorded
Visual impairment	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)
Respiratory failure	Often (30–79%)
Respiratory function loss	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)

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

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