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	Kui sageli seda täheldatakse
Ataxia	Alati
CNS demyelination	Alati
Degeneration of cerebellum	Alati
Delayed speech and language development	Alati
Elevated brain lactate level by MRS	Alati
Gliosis	Alati
Global developmental delay	Alati
Thin corpus callosum	Alati
Intellectual disability	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Grand mal seizures	Sageli (30–79%)
Epilepsia partialis continua	Mõnikord (5–29%)
Exaggerated startle response	Mõnikord (5–29%)
Inability to coordinate movements when walking	Mõnikord (5–29%)
Jerking	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Visual fixation instability	Alati
Visual loss	Alati
Weakness of muscles controlling eye movement	Alati
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Decreased clarity of vision	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Alati
Appendicular spasticity	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Ragged-red muscle fibers	Sageli (30–79%)
Appendicular hypotonia	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated alkaline phosphatase	Alati
High urine lactic acid levels	Alati
Higher than normal levels of lactate in blood	Alati
Hyperprolinemia	Alati
Increased blood alanine	Alati
Low blood sugar	Alati

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormally small head	Alati
Eye folds	Sageli (30–79%)
Low insertion of columella	Sageli (30–79%)
Prominent nasal bridge	Mõnikord (5–29%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex I	Alati
Decreased activity of mitochondrial complex IV	Alati

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Vomiting	Alati
Feeding difficulties	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Low-set ears	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Respiratory failure requiring assisted ventilation	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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