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.

Abnormality of head or neck

Trait	Cât de frecvent apare
Basilar invagination	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
High palate	Uneori (5–29%)
Long face	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Prominent nose	Uneori (5–29%)
Short chin	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Uneori (5–29%)
Low muscle tone, in neonatal onset	Uneori (5–29%)
Rounded lower back	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Decreased blood leukocyte number	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Low platelet count	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Birthmark	Des (30–79%)
Dry skin	Uneori (5–29%)
Irregular hyperpigmentation	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Global developmental delay	Întotdeauna
Attention deficit	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Glue ear	Uneori (5–29%)
Small ears	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Eczema	Uneori (5–29%)
Recurrent infections	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased anti-CD3/28-induced T-cell proliferation	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Des (30–79%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Clouding of the lens of the eye	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Permanent enlargement of the airways of the lungs	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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