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Traits
Traits linked to SLF2
SMC5/6 complex localization factor 2
The Human Phenotype Ontology links 32 traits to SLF2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Basilar invagination | Sometimes (5–29%) |
| Dental cavities | Sometimes (5–29%) |
| Downward slanting of the opening between the eyelids | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Long face | Sometimes (5–29%) |
| Long philtrum | Sometimes (5–29%) |
| Prominent nose | Sometimes (5–29%) |
| Short chin | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Sometimes (5–29%) |
| Low muscle tone, in neonatal onset | Sometimes (5–29%) |
| Rounded lower back | Sometimes (5–29%) |
| Spasticity and rigidity of muscles | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Decreased blood leukocyte number | Sometimes (5–29%) |
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
| Low platelet count | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Birthmark | Often (30–79%) |
| Dry skin | Sometimes (5–29%) |
| Irregular hyperpigmentation | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Always |
| Attention deficit | Sometimes (5–29%) |
| Autism spectrum disorder | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Glue ear | Sometimes (5–29%) |
| Small ears | Sometimes (5–29%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Eczema | Sometimes (5–29%) |
| Recurrent infections | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased anti-CD3/28-induced T-cell proliferation | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Often (30–79%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Underactive thyroid | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Clouding of the lens of the eye | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Permanent enlargement of the airways of the lungs | 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 SLF2 and how often each is seen. Find out more at hpo.jax.org.
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