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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.

Abnormality of head or neck

TraitHvor ofte det ses
Basilar invaginationNogle gange (5–29 %)
Dental cavitiesNogle gange (5–29 %)
Downward slanting of the opening between the eyelidsNogle gange (5–29 %)
High palateNogle gange (5–29 %)
Long faceNogle gange (5–29 %)
Long philtrumNogle gange (5–29 %)
Prominent noseNogle gange (5–29 %)
Short chinNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneNogle gange (5–29 %)
Low muscle tone, in neonatal onsetNogle gange (5–29 %)
Rounded lower backNogle gange (5–29 %)
Spasticity and rigidity of musclesNogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Decreased blood leukocyte numberNogle gange (5–29 %)
Low number of red blood cells or hemoglobinNogle gange (5–29 %)
Low platelet countNogle gange (5–29 %)

Abnormality of the integument

TraitHvor ofte det ses
BirthmarkOfte (30–79 %)
Dry skinNogle gange (5–29 %)
Irregular hyperpigmentationNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Global developmental delayAltid
Attention deficitNogle gange (5–29 %)
Autism spectrum disorderNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
An opening in the wall separating the top two chambers of the heartNogle gange (5–29 %)
Hole in heart wall separating two lower heart chambersNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Glue earNogle gange (5–29 %)
Small earsNogle gange (5–29 %)

Abnormality of the immune system

TraitHvor ofte det ses
EczemaNogle gange (5–29 %)
Recurrent infectionsNogle gange (5–29 %)

Abnormal cellular phenotype

TraitHvor ofte det ses
Decreased anti-CD3/28-induced T-cell proliferationNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Feeding difficultiesOfte (30–79 %)

Abnormality of the endocrine system

TraitHvor ofte det ses
Underactive thyroidNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Clouding of the lens of the eyeNogle gange (5–29 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Permanent enlargement of the airways of the lungsNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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