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	Hvor ofte den forekommer
Ataxia	Alltid
CNS demyelination	Alltid
Degeneration of cerebellum	Alltid
Delayed speech and language development	Alltid
Elevated brain lactate level by MRS	Alltid
Gliosis	Alltid
Global developmental delay	Alltid
Thin corpus callosum	Alltid
Intellectual disability	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Grand mal seizures	Ofte (30–79 %)
Epilepsia partialis continua	Noen ganger (5–29 %)
Exaggerated startle response	Noen ganger (5–29 %)
Inability to coordinate movements when walking	Noen ganger (5–29 %)
Jerking	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Visual fixation instability	Alltid
Visual loss	Alltid
Weakness of muscles controlling eye movement	Alltid
Cross-eyed	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Optic atrophy	Ofte (30–79 %)
Decreased clarity of vision	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Alltid
Appendicular spasticity	Ofte (30–79 %)
Low muscle tone in trunk	Ofte (30–79 %)
Muscle weakness	Ofte (30–79 %)
Ragged-red muscle fibers	Ofte (30–79 %)
Appendicular hypotonia	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated alkaline phosphatase	Alltid
High urine lactic acid levels	Alltid
Higher than normal levels of lactate in blood	Alltid
Hyperprolinemia	Alltid
Increased blood alanine	Alltid
Low blood sugar	Alltid

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Alltid
Eye folds	Ofte (30–79 %)
Low insertion of columella	Ofte (30–79 %)
Prominent nasal bridge	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Decreased activity of mitochondrial complex I	Alltid
Decreased activity of mitochondrial complex IV	Alltid

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Vomiting	Alltid
Feeding difficulties	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Low-set ears	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Respiratory failure requiring assisted ventilation	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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