Trăsături

Trăsături asociate cu SON

SON DNA and RNA binding protein

Human Phenotype Ontology asociază 138 trăsături cu SON, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SON

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Decreased size of maxilla	Întotdeauna
Prominent forehead	Întotdeauna
Relatively large head	Întotdeauna
Short nose	Întotdeauna
Sparse eyebrow	Întotdeauna
Abnormal facial shape	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Decreased volume of lip	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
Bifid uvula	Uneori (5–29%)
Broad eyebrow	Uneori (5–29%)
Broad lateral eyebrow	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Early closure of midline skull joint	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Full cheeks	Uneori (5–29%)
Metopic synostosis	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Submucous cleft soft palate	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Abnormal dentition	Neînregistrat
High palate	Neînregistrat
Narrow mouth	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to crawl	Întotdeauna
Delayed ability to roll over	Întotdeauna
Delayed ability to sit	Întotdeauna
Delayed ability to walk	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Intellectual disability, severe	Întotdeauna
Abnormal shape of brain	Foarte des (80–99%)
Abnormal cerebral cortex morphology	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Epilepsy	Des (30–79%)
Generalized-onset seizure	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormal cerebral white matter morphology	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Cerebellar hemisphere hypoplasia	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Dysplastic corpus callosum	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Generalized brain degeneration	Uneori (5–29%)
Hallucinations of sound	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
More grooves in brain	Uneori (5–29%)
Periventricular leukomalacia	Uneori (5–29%)
Progressive ventriculomegaly	Uneori (5–29%)
Repeated seizures without recovery between them	Uneori (5–29%)
Simplified gyral pattern	Uneori (5–29%)
Small cerebellum	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone, in neonatal onset	Întotdeauna
Decreased muscle tone in infant	Des (30–79%)
Double-Jointed	Des (30–79%)
Low muscle tone	Des (30–79%)
Cervical ribs	Uneori (5–29%)
Excessive inward curvature of lower spine	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Hyperextensibility at elbow	Uneori (5–29%)
Hyperextensible hand joints	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Missing part of vertebrae	Uneori (5–29%)
Rib fusion	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Slender long bone	Uneori (5–29%)
Hunched back	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Foarte des (80–99%)
Cross-eyed	Des (30–79%)
Farsightedness	Des (30–79%)
Blue outer white part of eyeball	Uneori (5–29%)
Cerebral visual impairment	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Optic nerve hypoplasia	Uneori (5–29%)
Outward facing eye ball	Uneori (5–29%)
Progressive loss of vision	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Feeding difficulties in infancy	Întotdeauna
Intestinal atresia	Întotdeauna
Absent gallbladder	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Chronic diarrhea	Uneori (5–29%)
Delayed gastric emptying	Uneori (5–29%)
Gastrointestinal dysmotility	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Aortic regurgitation	Întotdeauna
Abnormality of the common carotid artery	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Mini stroke	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Patent ductus arteriosus after birth at term	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Faltering weight	Des (30–79%)
Faltering weight in infancy	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Proportionate short stature	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Increased urine output	Întotdeauna
Abnormality of the genitourinary system	Des (30–79%)
Absent kidney on one side	Uneori (5–29%)
Bilateral renal dysplasia	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Absent thumb	Uneori (5–29%)
Long slender fingers	Uneori (5–29%)
Short foot	Neînregistrat
Small hand	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Prominent ear	Întotdeauna
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Curly hair	Întotdeauna
Hyperelastic skin	Întotdeauna
Soft, doughy skin	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Emphysema	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)
Unilateral lung agenesis	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating IgG concentration	Uneori (5–29%)
Decreased secretory IgA concentration	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Feet or buttocks of fetus positioned near opening of uterus	Întotdeauna
Fetal distress	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	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 SON și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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