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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.

Abnormality of limbs

TraitKui sageli seda täheldatakse
Abnormality of the wide portion of a long boneSageli (30–79%)
Absent palm linesSageli (30–79%)
Broad femoral neckSageli (30–79%)
Dislocated radial headSageli (30–79%)
Flared wide portion of long boneSageli (30–79%)
Flat end part of innermost thighboneSageli (30–79%)
Short neck of thighboneSageli (30–79%)
Tapered fingerSageli (30–79%)
Thenar muscle atrophySageli (30–79%)
Dropped archesPole registreeritud
Joint contracture of the handPole registreeritud
Permanent flexion of the fingerPole registreeritud
Short finger bonesPole registreeritud
Shortened long bone of handPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Depressed nasal bridgeAlati
Webbed neckAlati
Bifid uvulaSageli (30–79%)
Downward slanting of the opening between the eyelidsSageli (30–79%)
Bad bitePole registreeritud
Delayed eruption of teethPole registreeritud
Failure of development of between one and six teethPole registreeritud
Frontal bossingPole registreeritud
High palatePole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Abnormal skeletal developmentVäga sageli (80–99%)
Flat end part of boneSageli (30–79%)
Flattened vertebraeSageli (30–79%)
OsteopeniaSageli (30–79%)
Flexed joint that cannot be straightenedMõnikord (5–29%)
KyphoscoliosisMõnikord (5–29%)
Double-JointedPole registreeritud
Irregular vertebral endplatesPole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Wide-set eyesAlati
Blue outer white part of eyeballVäga sageli (80–99%)
Bulging eyeVäga sageli (80–99%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Hyperelastic skinVäga sageli (80–99%)
Thin skinVäga sageli (80–99%)
Cigarette-paper scarsSageli (30–79%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightVäga sageli (80–99%)
Moderate short statureVäga sageli (80–99%)
Short staturePole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Motor delaySageli (30–79%)
Waddling gaitPole registreeritud

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Bruising susceptibilityVäga sageli (80–99%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Prominent veinsPole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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