AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu FANCL
FA complementation group L
Human Phenotype Ontology asociază 130 trăsături cu FANCL, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Short penis | Întotdeauna |
| Abnormally shaped kidney | Des (30–79%) |
| Absent kidney on one side | Des (30–79%) |
| Absent uterus | 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%) |
| Hydroureter | Uneori (5–29%) |
| Hypospadias | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
| Small kidneys | 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%) |
| Cleft palate | Des (30–79%) |
| Depressed nasal tip | Des (30–79%) |
| Little lower jaw | Des (30–79%) |
| Short opening between the eyelids | Des (30–79%) |
| Upward slanting of the opening between the eyelids | Des (30–79%) |
| Webbed neck | 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%) |
| Eye folds | Uneori (5–29%) |
| Facial asymmetry | Uneori (5–29%) |
| Frontal bossing | Uneori (5–29%) |
| High palate | Uneori (5–29%) |
| Long, narrow head | Uneori (5–29%) |
| Short neck | Uneori (5–29%) |
| Sloping forehead | Uneori (5–29%) |
| Wide nasal bridge | Uneori (5–29%) |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Absent thumb | Întotdeauna |
| Missing outer large bone of forearm | Întotdeauna |
| 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%) |
| Club foot on both sides | Des (30–79%) |
| Abnormal feet structure | Uneori (5–29%) |
| Abnormal morphology of ulna | Uneori (5–29%) |
| Abnormality of the thighbone | 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%) |
| Underdeveloped inner large forearm bone | Uneori (5–29%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Wide-set eyes | Des (30–79%) |
| 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%) |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Attention deficit | Întotdeauna |
| Delayed CNS myelination | Întotdeauna |
| Global developmental delay | Întotdeauna |
| Intellectual disability | Des (30–79%) |
| Small cerebellum | Des (30–79%) |
| Too much cerebrospinal fluid in the brain | 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%) |
| Ventriculomegaly | 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 digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Feeding difficulties | Întotdeauna |
| Abnormal connection between trachea and esophagus | Des (30–79%) |
| Absent anus | Des (30–79%) |
| Birth defect in which part of esophagus did not develop | Des (30–79%) |
| Abnormality of the liver | 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 blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of blood and blood-forming tissues | Foarte des (80–99%) |
| Decreased blood leukocyte number | Foarte des (80–99%) |
| Low number of red blood cells or hemoglobin | Foarte des (80–99%) |
| Low platelet count | Foarte des (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Foarte des (80–99%) |
| Bone marrow failure | Uneori (5–29%) |
| Myelodysplasia | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Absent ear | Des (30–79%) |
| Low-set ears | Des (30–79%) |
| Small ears | Des (30–79%) |
| Abnormally shaped ears | Uneori (5–29%) |
| Hearing abnormality | Uneori (5–29%) |
| Hearing impairment | Uneori (5–29%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Birthmark | Întotdeauna |
| Abnormal skin pigmentation | Foarte des (80–99%) |
| Irregular hyperpigmentation | Foarte des (80–99%) |
| Patchy loss of skin color | Foarte des (80–99%) |
| Multiple birthmarks | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Growth delay | Întotdeauna |
| Short stature | Foarte des (80–99%) |
| Prenatal growth deficiency | Des (30–79%) |
| Weight loss | Uneori (5–29%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Chromosomal breakage induced by crosslinking agents | Întotdeauna |
| Chromosome breakage | Întotdeauna |
| Abnormality of chromosome stability | Foarte des (80–99%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Scoliosis | Des (30–79%) |
| Small sacrum | Des (30–79%) |
| Low solidness and mass of the bones | Uneori (5–29%) |
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%) |
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 FANCL și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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