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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

TraitHvor ofte det ses
AtaxiaAltid
CNS demyelinationAltid
Degeneration of cerebellumAltid
Delayed speech and language developmentAltid
Elevated brain lactate level by MRSAltid
GliosisAltid
Global developmental delayAltid
Thin corpus callosumAltid
Intellectual disabilityMeget ofte (80–99 %)
Abnormal gaitOfte (30–79 %)
Grand mal seizuresOfte (30–79 %)
Epilepsia partialis continuaNogle gange (5–29 %)
Exaggerated startle responseNogle gange (5–29 %)
Inability to coordinate movements when walkingNogle gange (5–29 %)
JerkingNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Visual fixation instabilityAltid
Visual lossAltid
Weakness of muscles controlling eye movementAltid
Cross-eyedOfte (30–79 %)
Drooping upper eyelidOfte (30–79 %)
Involuntary, rapid, rhythmic eye movementsOfte (30–79 %)
Optic atrophyOfte (30–79 %)
Decreased clarity of visionNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
EMG: decremental response of compound muscle action potential to repetitive nerve stimulationAltid
Appendicular spasticityOfte (30–79 %)
Low muscle tone in trunkOfte (30–79 %)
Muscle weaknessOfte (30–79 %)
Ragged-red muscle fibersOfte (30–79 %)
Appendicular hypotoniaNogle gange (5–29 %)

Laboratory abnormality

TraitHvor ofte det ses
Elevated alkaline phosphataseAltid
High urine lactic acid levelsAltid
Higher than normal levels of lactate in bloodAltid
HyperprolinemiaAltid
Increased blood alanineAltid
Low blood sugarAltid

Abnormality of head or neck

TraitHvor ofte det ses
Abnormally small headAltid
Eye foldsOfte (30–79 %)
Low insertion of columellaOfte (30–79 %)
Prominent nasal bridgeNogle gange (5–29 %)

Abnormal cellular phenotype

TraitHvor ofte det ses
Decreased activity of mitochondrial complex IAltid
Decreased activity of mitochondrial complex IVAltid

Abnormality of the digestive system

TraitHvor ofte det ses
VomitingAltid
Feeding difficultiesNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Low-set earsNogle gange (5–29 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Respiratory failure requiring assisted ventilationNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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