Traits

Traits linked to MTFMT

mitochondrial methionyl-tRNA formyltransferase

The Human Phenotype Ontology links 39 traits to MTFMT, 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
Global developmental delay	Always
Worsening neurological symptoms	Always
Abnormal pyramidal sign	Often (30–79%)
Ataxia	Often (30–79%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Epilepsy	Often (30–79%)
Incoordination	Often (30–79%)
Intellectual disability	Often (30–79%)
Waking up screaming	Often (30–79%)
Tremor	Sometimes (5–29%)
Abnormal cerebral white matter morphology	Not recorded
Cognitive impairment	Not recorded
Delayed speech and language development	Not recorded
Unsteady walk	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Optic atrophy	Often (30–79%)
Optic disc pallor	Often (30–79%)
Vertical supranuclear gaze palsy	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Shortened PR interval	Often (30–79%)
Wolff-Parkinson-White syndrome	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Ventricular septal hypertrophy	Rarely (1–4%)

Abnormal cellular phenotype

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

Abnormality of limbs

Trait	How often it is seen
Single transverse palmar crease	Often (30–79%)
Small hand	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Spastic tetraplegia	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Increased CSF lactate	Always
Higher than normal levels of lactate in blood	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing cessation	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 MTFMT and how often each is seen. Find out more at hpo.jax.org.

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