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Traits
Traits linked to TFG
trafficking from ER to golgi regulator
The Human Phenotype Ontology links 64 traits to TFG, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Difficulty in standing | Always |
| Difficulty walking up stairs | Always |
| Lower limb amyotrophy | Always |
| Lower limb spasticity | Always |
| Muscle weakness | Always |
| Spastic paraplegia | Always |
| Distal lower limb amyotrophy | Very often (80–99%) |
| Fatiguable weakness of proximal limb muscles | Very often (80–99%) |
| Intermittent painful muscle spasms | Very often (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Very often (80–99%) |
| EMG: positive sharp waves | Often (30–79%) |
| Muscle spasm | Not recorded |
| Proximal neurogenic muscle weakness | Not recorded |
| Wasting of muscles near the body | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Hand muscle degeneration | Always |
| Abnormality of the Achilles tendon | Very often (80–99%) |
| Decreased arm strength | Very often (80–99%) |
| Lower limb muscle weakness | Very often (80–99%) |
| Limb fasciculations | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated blood creatine phosphokinase | Often (30–79%) |
| High blood sugar | Often (30–79%) |
| Abnormal glucose homeostasis | Sometimes (5–29%) |
| Elevated lipids in blood | Sometimes (5–29%) |
| Mildly elevated creatine kinase | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Cough | Very often (80–99%) |
| Breathing difficulty | Sometimes (5–29%) |
| Respiratory failure | Sometimes (5–29%) |
| Respiratory failure requiring assisted ventilation | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Nasogastric tube feeding in infancy | Sometimes (5–29%) |
| Poor swallowing | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Optic atrophy | Always |
| Visual loss | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Urinary tract abnormalities | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Aspiration pneumonia | Sometimes (5–29%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to TFG and how often each is seen. Find out more at hpo.jax.org.
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