Traits

Traits linked to TEFM

transcription elongation factor, mitochondrial

The Human Phenotype Ontology links 45 traits to TEFM, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Ataxia	Visada
CNS demyelination	Visada
Degeneration of cerebellum	Visada
Delayed speech and language development	Visada
Elevated brain lactate level by MRS	Visada
Gliosis	Visada
Global developmental delay	Visada
Thin corpus callosum	Visada
Intellectual disability	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Epilepsia partialis continua	Kartais (5–29%)
Exaggerated startle response	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Jerking	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Visual fixation instability	Visada
Visual loss	Visada
Weakness of muscles controlling eye movement	Visada
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Decreased clarity of vision	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Visada
Appendicular spasticity	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Ragged-red muscle fibers	Dažnai (30–79%)
Appendicular hypotonia	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated alkaline phosphatase	Visada
High urine lactic acid levels	Visada
Higher than normal levels of lactate in blood	Visada
Hyperprolinemia	Visada
Increased blood alanine	Visada
Low blood sugar	Visada

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Visada
Eye folds	Dažnai (30–79%)
Low insertion of columella	Dažnai (30–79%)
Prominent nasal bridge	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex I	Visada
Decreased activity of mitochondrial complex IV	Visada

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Vomiting	Visada
Feeding difficulties	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Respiratory failure requiring assisted ventilation	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TEFM and how often each is seen. Find out more at hpo.jax.org.

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