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Traits
Traits linked to FITM2
fat storage inducing transmembrane protein 2
The Human Phenotype Ontology links 12 traits to FITM2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed ability to walk | Always |
| Global developmental delay | Always |
| Motor delay | Always |
| Limb dystonia | Often (30–79%) |
| Epilepsy | Sometimes (5–29%) |
| Loss of developmental milestones | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Flexed joint that cannot be straightened | Often (30–79%) |
| Lower limb amyotrophy | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| High-arched foot | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Loss of bladder control | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Ichthyosis | Always |
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 FITM2 and how often each is seen. Find out more at hpo.jax.org.
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