AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu SLX4
SLX4 structure-specific endonuclease subunit
Human Phenotype Ontology asociază 118 trăsături cu SLX4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the thumb | Foarte des (80–99%) |
| Abnormality of the upper limb | Foarte des (80–99%) |
| Aplasia/Hypoplasia of the radius | Foarte des (80–99%) |
| Abnormal feet structure | Uneori (5–29%) |
| Abnormal morphology of ulna | Uneori (5–29%) |
| Abnormality of the thighbone | Uneori (5–29%) |
| Absent thumb | Uneori (5–29%) |
| Absent/small fingers | Uneori (5–29%) |
| Clubbed toes | Uneori (5–29%) |
| Curvature of little finger | Uneori (5–29%) |
| Dropped arches | Uneori (5–29%) |
| Finger syndactyly | Uneori (5–29%) |
| Finger-like thumb | Uneori (5–29%) |
| Fused toes | Uneori (5–29%) |
| Hip dislocation | Uneori (5–29%) |
| Short thumb | Uneori (5–29%) |
| Underdeveloped inner large forearm bone | Uneori (5–29%) |
| Underdeveloped outer large forearm bone | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormally shaped kidney | Des (30–79%) |
| Urinary tract abnormalities | Des (30–79%) |
| Abnormal localisation of kidneys | Uneori (5–29%) |
| Abnormal preputium morphology | Uneori (5–29%) |
| Abnormality of the testis | Uneori (5–29%) |
| Abnormality of the uterus | Uneori (5–29%) |
| Absent sperm in semen | Uneori (5–29%) |
| Absent testes | Uneori (5–29%) |
| Absent/small kidney | Uneori (5–29%) |
| Decreased fertility in males | Uneori (5–29%) |
| Frequent urinary tract infections | Uneori (5–29%) |
| Heart shaped uterus | Uneori (5–29%) |
| Horseshoe kidney | Uneori (5–29%) |
| Hydroureter | Uneori (5–29%) |
| Hypospadias | Uneori (5–29%) |
| Pelvic kidney | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
| Undescended testes | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormally small head | Des (30–79%) |
| Almond shaped eyes | Des (30–79%) |
| Short opening between the eyelids | Des (30–79%) |
| Abnormality of the eyelid | Uneori (5–29%) |
| Aplasia/Hypoplasia of the uvula | Uneori (5–29%) |
| Blockage of the rear opening of the nasal cavity | Uneori (5–29%) |
| Bulbous nose | Uneori (5–29%) |
| Cleft palate | Uneori (5–29%) |
| Eye folds | Uneori (5–29%) |
| Facial asymmetry | Uneori (5–29%) |
| Frontal bossing | Uneori (5–29%) |
| High palate | Uneori (5–29%) |
| Little lower jaw | Uneori (5–29%) |
| Long, narrow head | Uneori (5–29%) |
| Narrow opening between the eyelids | Uneori (5–29%) |
| Sloping forehead | Uneori (5–29%) |
| Upward slanting of the opening between the eyelids | Uneori (5–29%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the eye | Uneori (5–29%) |
| Abnormality of vision | Uneori (5–29%) |
| Abnormally small eyeball | Uneori (5–29%) |
| Absent/small iris | Uneori (5–29%) |
| Astigmatism | Uneori (5–29%) |
| Bulging eye | Uneori (5–29%) |
| Clouding of the lens of the eye | Uneori (5–29%) |
| Cross-eyed | Uneori (5–29%) |
| Drooping upper eyelid | Uneori (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Uneori (5–29%) |
| Visual impairment | Uneori (5–29%) |
| Wide-set eyes | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal cardiac septum morphology | Des (30–79%) |
| Abnormal aortic morphology | Uneori (5–29%) |
| Abnormal aortic valve morphology | Uneori (5–29%) |
| Abnormal carotid artery morphology | Uneori (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Uneori (5–29%) |
| Arteriovenous malformation | Uneori (5–29%) |
| Enlarged and thickened heart muscle | Uneori (5–29%) |
| Patent ductus arteriosus | Uneori (5–29%) |
| Tetralogy of Fallot | Uneori (5–29%) |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Global developmental delay | Des (30–79%) |
| Intellectual disability | Des (30–79%) |
| Abnormal shape of nervous system | Uneori (5–29%) |
| Cranial nerve paralysis | Uneori (5–29%) |
| Increased reflexes | Uneori (5–29%) |
| Split spine | Uneori (5–29%) |
| Too much cerebrospinal fluid in the brain | Uneori (5–29%) |
| Ventriculomegaly | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low number of red blood cells or hemoglobin | Întotdeauna |
| Abnormality of blood and blood-forming tissues | Foarte des (80–99%) |
| Decreased blood leukocyte number | Foarte des (80–99%) |
| Low platelet count | Foarte des (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Foarte des (80–99%) |
| Low blood cell count | Des (30–79%) |
| Myelodysplasia | Uneori (5–29%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal connection between trachea and esophagus | Uneori (5–29%) |
| Abnormality of the liver | Uneori (5–29%) |
| Absent anus | Uneori (5–29%) |
| Duodenal stenosis | Uneori (5–29%) |
| Enlarged colon lacking nerve cells | Uneori (5–29%) |
| Meckel diverticulum | Uneori (5–29%) |
| Umbilical hernia | Uneori (5–29%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal skin pigmentation | Foarte des (80–99%) |
| Irregular hyperpigmentation | Foarte des (80–99%) |
| Patchy loss of skin color | Foarte des (80–99%) |
| Birthmark | Uneori (5–29%) |
| Blotchy loss of skin color | Uneori (5–29%) |
| Multiple birthmarks | Uneori (5–29%) |
| Squamous cell carcinoma | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Growth delay | Întotdeauna |
| Short stature | Foarte des (80–99%) |
| Prenatal growth deficiency | Uneori (5–29%) |
| Weight loss | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormally shaped ears | Uneori (5–29%) |
| Hearing abnormality | Uneori (5–29%) |
| Hearing impairment | Uneori (5–29%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Întotdeauna |
| Abnormality of chromosome stability | Foarte des (80–99%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Uneori (5–29%) |
| Decreased activity of gonads | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Scoliosis | Des (30–79%) |
| Low solidness and mass of the bones | Uneori (5–29%) |
Abnormal tissue mass
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal tissue mass | Des (30–79%) |
Abnormality of prenatal development or birth
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low levels of amniotic fluid | 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
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SLX4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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