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Traits
Traits linked to SLC39A13
solute carrier family 39 member 13
The Human Phenotype Ontology links 44 traits to SLC39A13, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormality of the wide portion of a long bone | Often (30–79%) |
| Absent palm lines | Often (30–79%) |
| Broad femoral neck | Often (30–79%) |
| Dislocated radial head | Often (30–79%) |
| Flared wide portion of long bone | Often (30–79%) |
| Flat end part of innermost thighbone | Often (30–79%) |
| Short neck of thighbone | Often (30–79%) |
| Tapered finger | Often (30–79%) |
| Thenar muscle atrophy | Often (30–79%) |
| Dropped arches | Not recorded |
| Joint contracture of the hand | Not recorded |
| Permanent flexion of the finger | Not recorded |
| Short finger bones | Not recorded |
| Shortened long bone of hand | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Depressed nasal bridge | Always |
| Webbed neck | Always |
| Bifid uvula | Often (30–79%) |
| Downward slanting of the opening between the eyelids | Often (30–79%) |
| Bad bite | Not recorded |
| Delayed eruption of teeth | Not recorded |
| Failure of development of between one and six teeth | Not recorded |
| Frontal bossing | Not recorded |
| High palate | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal skeletal development | Very often (80–99%) |
| Flat end part of bone | Often (30–79%) |
| Flattened vertebrae | Often (30–79%) |
| Osteopenia | Often (30–79%) |
| Flexed joint that cannot be straightened | Sometimes (5–29%) |
| Kyphoscoliosis | Sometimes (5–29%) |
| Double-Jointed | Not recorded |
| Irregular vertebral endplates | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Always |
| Blue outer white part of eyeball | Very often (80–99%) |
| Bulging eye | Very often (80–99%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Hyperelastic skin | Very often (80–99%) |
| Thin skin | Very often (80–99%) |
| Cigarette-paper scars | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Moderate short stature | Very often (80–99%) |
| Short stature | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Motor delay | Often (30–79%) |
| Waddling gait | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Bruising susceptibility | Very often (80–99%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Prominent veins | Not recorded |
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 SLC39A13 and how often each is seen. Find out more at hpo.jax.org.
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