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	Cât de frecvent apare
Ataxia	Întotdeauna
CNS demyelination	Întotdeauna
Degeneration of cerebellum	Întotdeauna
Delayed speech and language development	Întotdeauna
Elevated brain lactate level by MRS	Întotdeauna
Gliosis	Întotdeauna
Global developmental delay	Întotdeauna
Thin corpus callosum	Întotdeauna
Intellectual disability	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Grand mal seizures	Des (30–79%)
Epilepsia partialis continua	Uneori (5–29%)
Exaggerated startle response	Uneori (5–29%)
Inability to coordinate movements when walking	Uneori (5–29%)
Jerking	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Visual fixation instability	Întotdeauna
Visual loss	Întotdeauna
Weakness of muscles controlling eye movement	Întotdeauna
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Optic atrophy	Des (30–79%)
Decreased clarity of vision	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Întotdeauna
Appendicular spasticity	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Muscle weakness	Des (30–79%)
Ragged-red muscle fibers	Des (30–79%)
Appendicular hypotonia	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated alkaline phosphatase	Întotdeauna
High urine lactic acid levels	Întotdeauna
Higher than normal levels of lactate in blood	Întotdeauna
Hyperprolinemia	Întotdeauna
Increased blood alanine	Întotdeauna
Low blood sugar	Întotdeauna

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Întotdeauna
Eye folds	Des (30–79%)
Low insertion of columella	Des (30–79%)
Prominent nasal bridge	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Întotdeauna
Decreased activity of mitochondrial complex IV	Întotdeauna

Abnormality of the digestive system

Trait	Cât de frecvent apare
Vomiting	Întotdeauna
Feeding difficulties	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Low-set ears	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Respiratory failure requiring assisted ventilation	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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