Trăsături

Trăsături asociate cu FBXO22

F-box protein 22

Human Phenotype Ontology asociază 114 trăsături cu FBXO22, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

FBXO22

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Decreased facial muscle tone	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
High forehead	Des (30–79%)
Little lower jaw	Des (30–79%)
Narrow palate	Des (30–79%)
Short nose	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Small head present at birth	Des (30–79%)
Triangular face	Des (30–79%)
Bulbous nose	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Dental crowding	Uneori (5–29%)
Early eruption of teeth	Uneori (5–29%)
Fragile teeth	Uneori (5–29%)
Gum enlargement	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Webbed neck	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Grand mal seizures	Întotdeauna
Neurodevelopmental delay	Foarte des (80–99%)
Epilepsy	Des (30–79%)
Intellectual disability	Des (30–79%)
Poor fine motor coordination	Des (30–79%)
Abnormal periventricular white matter morphology	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Periventricular cysts	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Wide based walk	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal kidney location	Des (30–79%)
Absent kidney	Des (30–79%)
Bilateral renal dysplasia	Des (30–79%)
Cystic kidney disease	Des (30–79%)
Hyperechogenic kidneys	Des (30–79%)
Short penis	Des (30–79%)
Small kidneys	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormal external genitalia	Uneori (5–29%)
Increased urine output	Uneori (5–29%)
Renal failure	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Biventricular hypertrophy	Întotdeauna
Narrowing of aorta	Întotdeauna
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
Patent foramen ovale	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Hypoplastic tricuspid valve	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Strawberry mark	Uneori (5–29%)
Underdeveloped right heart	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor suck	Foarte des (80–99%)
Absence or narrowing of first part of small bowel	Des (30–79%)
Acid reflux	Des (30–79%)
Annular pancreas	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Stomach hernia	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Des (30–79%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Retina issue	Uneori (5–29%)
Visual impairment	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Harder, denser, fracture-prone bones	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Uneori (5–29%)
Food intolerance	Uneori (5–29%)
High blood phosphate levels	Uneori (5–29%)
Low blood calcium levels	Uneori (5–29%)
Low blood phosphate level	Uneori (5–29%)
Low blood sugar	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Coxa valga	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Permanent flexion of the finger	Uneori (5–29%)
Tapered finger	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormality of the nail	Uneori (5–29%)
Blue discoloration of the skin	Uneori (5–29%)
Dry skin	Uneori (5–29%)
Premature skin wrinkling	Uneori (5–29%)
Thickened skin	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)
Fetal ascites	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)
Prenatal double bubble sign	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenal insufficiency	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Overactive thyroid	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Small for gestational age	Foarte des (80–99%)
Prenatal growth deficiency	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Small ears	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Uneori (5–29%)
Central hypoventilation	Uneori (5–29%)
Poorly developed lungs	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Infection in blood stream	Uneori (5–29%)
Recurrent aspiration pneumonia	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	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 FBXO22 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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