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Traits
Traits linked to ATL3
atlastin GTPase 3
The Human Phenotype Ontology links 36 traits to ATL3, 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 |
|---|---|
| Sensory axonal neuropathy | Always |
| Abnormality of balance | Very often (80–99%) |
| Abnormality of the autonomic nervous system | Very often (80–99%) |
| Decreased amplitude of sensory action potentials | Very often (80–99%) |
| Decreased sensation in extremities | Very often (80–99%) |
| Impaired pain sensation | Very often (80–99%) |
| Numbness | Very often (80–99%) |
| Decreased touch sensation in extremities | Often (30–79%) |
| High stepping | Often (30–79%) |
| Impaired temperature sensation | Often (30–79%) |
| Pain insensitivity | Often (30–79%) |
| Trophic changes related to pain | Often (30–79%) |
| Inability to walk | Sometimes (5–29%) |
| Motor axonal neuropathy | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Muscle weakness | Very often (80–99%) |
| Limb pain | Often (30–79%) |
| Neuropathic arthropathy | Often (30–79%) |
| Weakness of outermost muscles | Often (30–79%) |
| Distal muscle wasting | Sometimes (5–29%) |
| EMG: slow motor conduction | Sometimes (5–29%) |
| Spontaneous fracture | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Bunion | Very often (80–99%) |
| Foot drop | Often (30–79%) |
| Metatarsal fracture | Often (30–79%) |
| Breakdown of small bones of fingers | Not recorded |
| Hyporeflexia of lower limbs | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Hyperkeratosis | Often (30–79%) |
| Lack of sweating or excessive sweating | Often (30–79%) |
| Open skin sore | Often (30–79%) |
| Penetrating foot ulcers | Often (30–79%) |
| Poor wound healing | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Bone infection | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Cough | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Impaired ability to dress oneself | Very often (80–99%) |
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 ATL3 and how often each is seen. Find out more at hpo.jax.org.
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