Özellikler

SON ile ilişkili özellikler

SON DNA and RNA binding protein

Human Phenotype Ontology, SON ile ilişkili 138 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

SON

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Big calvaria	Her zaman
Decreased size of maxilla	Her zaman
Prominent forehead	Her zaman
Relatively large head	Her zaman
Short nose	Her zaman
Sparse eyebrow	Her zaman
Abnormal facial shape	Çok sık (%80–99)
Midface retrusion	Çok sık (%80–99)
Decreased volume of lip	Sık (%30–79)
Downward slanting of the opening between the eyelids	Sık (%30–79)
Eye folds	Sık (%30–79)
Bifid uvula	Bazen (%5–29)
Broad eyebrow	Bazen (%5–29)
Broad lateral eyebrow	Bazen (%5–29)
Cleft palate	Bazen (%5–29)
Deformity of the skull	Bazen (%5–29)
Depressed nasal bridge	Bazen (%5–29)
Downturned corners of mouth	Bazen (%5–29)
Early closure of midline skull joint	Bazen (%5–29)
Facial asymmetry	Bazen (%5–29)
Frontal bossing	Bazen (%5–29)
Full cheeks	Bazen (%5–29)
Metopic synostosis	Bazen (%5–29)
Narrow forehead	Bazen (%5–29)
Short philtrum	Bazen (%5–29)
Smooth philtrum	Bazen (%5–29)
Submucous cleft hard palate	Bazen (%5–29)
Submucous cleft soft palate	Bazen (%5–29)
Wide nasal bridge	Bazen (%5–29)
Abnormal dentition	Kaydedilmedi
High palate	Kaydedilmedi
Narrow mouth	Kaydedilmedi

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone, in neonatal onset	Her zaman
Decreased muscle tone in infant	Sık (%30–79)
Double-Jointed	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Cervical ribs	Bazen (%5–29)
Excessive inward curvature of lower spine	Bazen (%5–29)
Flexed joint that cannot be straightened	Bazen (%5–29)
Hyperextensibility at elbow	Bazen (%5–29)
Hyperextensible hand joints	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Kyphoscoliosis	Bazen (%5–29)
Missing part of vertebrae	Bazen (%5–29)
Rib fusion	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Slender long bone	Bazen (%5–29)
Hunched back	Kaydedilmedi

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Deeply set eye	Çok sık (%80–99)
Cross-eyed	Sık (%30–79)
Farsightedness	Sık (%30–79)
Blue outer white part of eyeball	Bazen (%5–29)
Cerebral visual impairment	Bazen (%5–29)
Close sighted	Bazen (%5–29)
Involuntary, rapid, rhythmic eye movements	Bazen (%5–29)
Inward turning cross eyed	Bazen (%5–29)
Optic atrophy	Bazen (%5–29)
Optic nerve hypoplasia	Bazen (%5–29)
Outward facing eye ball	Bazen (%5–29)
Progressive loss of vision	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Her zaman
Feeding difficulties in infancy	Her zaman
Intestinal atresia	Her zaman
Absent gallbladder	Bazen (%5–29)
Acid reflux	Bazen (%5–29)
Chronic diarrhea	Bazen (%5–29)
Delayed gastric emptying	Bazen (%5–29)
Gastrointestinal dysmotility	Bazen (%5–29)
Gastrostomy tube feeding in infancy	Bazen (%5–29)
Poor swallowing	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Aortic regurgitation	Her zaman
Abnormality of the common carotid artery	Bazen (%5–29)
Abnormality of the heart	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Ischemic stroke	Bazen (%5–29)
Mini stroke	Bazen (%5–29)
Patent ductus arteriosus	Bazen (%5–29)
Patent ductus arteriosus after birth at term	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Growth delay	Her zaman
Faltering weight	Sık (%30–79)
Faltering weight in infancy	Sık (%30–79)
Prenatal growth deficiency	Sık (%30–79)
Proportionate short stature	Sık (%30–79)
Short stature	Sık (%30–79)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Increased urine output	Her zaman
Abnormality of the genitourinary system	Sık (%30–79)
Absent kidney on one side	Bazen (%5–29)
Bilateral renal dysplasia	Bazen (%5–29)
Horseshoe kidney	Bazen (%5–29)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Absent thumb	Bazen (%5–29)
Long slender fingers	Bazen (%5–29)
Short foot	Kaydedilmedi
Small hand	Kaydedilmedi

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Prominent ear	Her zaman
Hearing impairment	Bazen (%5–29)
Low-set ears	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Curly hair	Her zaman
Hyperelastic skin	Her zaman
Soft, doughy skin	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Emphysema	Bazen (%5–29)
Respiratory failure	Bazen (%5–29)
Unilateral lung agenesis	Bazen (%5–29)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Decreased circulating IgG concentration	Bazen (%5–29)
Decreased secretory IgA concentration	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Feet or buttocks of fetus positioned near opening of uterus	Her zaman
Fetal distress	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent infections	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: SON ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

Tek bir test. Ömür boyu yanıtlar.

$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde

Genome Test'imi al