Traits

Traits linked to MTRFR

mitochondrial translation release factor in rescue

The Human Phenotype Ontology links 79 traits to MTRFR, 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
Decreased touch sensation in extremities	Always
Global developmental delay	Always
Impaired distal vibration sensation	Always
Increased reflexes	Always
Loss of developmental milestones	Always
Absent reflexes	Very often (80–99%)
Ataxia	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Babinski sign	Often (30–79%)
Clumsy tandem walking	Often (30–79%)
Cognitive impairment	Often (30–79%)
Decreased sensation in extremities	Often (30–79%)
Decreased sensory nerve conduction velocity	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Elevated brain lactate level by MRS	Often (30–79%)
Focal white matter lesions	Often (30–79%)
High stepping	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Knee clonus	Often (30–79%)
Onion bulb formation	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Peripheral nerve disease	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Poor fine motor coordination	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormal brainstem MRI signal intensity	Sometimes (5–29%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormal thalamic MRI signal intensity	Sometimes (5–29%)
Decreased number of peripheral myelinated nerve fibers	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb amyotrophy	Always
Lower limb spasticity	Always
Spastic paraplegia	Always
Tibialis anterior muscle atrophy	Always
Muscle degeneration	Very often (80–99%)
Distal muscle wasting	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Spastic paraparesis	Often (30–79%)
Arthrogryposis multiplex congenita	Sometimes (5–29%)
Bulbar palsy	Sometimes (5–29%)
Decreased muscle tone in infant	Sometimes (5–29%)
Thoracic scoliosis	Sometimes (5–29%)
Muscle weakness	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blind spot located at fixation point	Always
Decreased clarity of vision	Always
Involuntary, rapid, rhythmic eye movements	Always
Optic atrophy	Always
Visual impairment	Very often (80–99%)
Cross-eyed	Often (30–79%)
Damaged optic nerve	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Often (30–79%)
Partial loss of field of vision	Often (30–79%)
Color blindness	Sometimes (5–29%)
Exodeviation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Always
Club feet	Often (30–79%)
Decreased arm strength	Often (30–79%)
Foot drop	Often (30–79%)
High-arched foot	Often (30–79%)
Tibialis muscle weakness	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Facial diplegia	Always
Chewing difficulties	Often (30–79%)
Facial paralysis	Often (30–79%)
Abnormal facial shape	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Paralytic ileus	Often (30–79%)
Poor swallowing	Often (30–79%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Oral-pharyngeal dysphagia	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial ATP synthase complex	Not recorded
Decreased activity of mitochondrial complex I	Not recorded
Decreased activity of mitochondrial complex IV	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	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 MTRFR and how often each is seen. Find out more at hpo.jax.org.

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