Egenskaper

Egenskaper kopplade till SON

SON DNA and RNA binding protein

Human Phenotype Ontology kopplar 138 egenskaper till SON, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

SON

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Big calvaria	Alltid
Decreased size of maxilla	Alltid
Prominent forehead	Alltid
Relatively large head	Alltid
Short nose	Alltid
Sparse eyebrow	Alltid
Abnormal facial shape	Mycket ofta (80–99 %)
Midface retrusion	Mycket ofta (80–99 %)
Decreased volume of lip	Ofta (30–79 %)
Downward slanting of the opening between the eyelids	Ofta (30–79 %)
Eye folds	Ofta (30–79 %)
Bifid uvula	Ibland (5–29 %)
Broad eyebrow	Ibland (5–29 %)
Broad lateral eyebrow	Ibland (5–29 %)
Cleft palate	Ibland (5–29 %)
Deformity of the skull	Ibland (5–29 %)
Depressed nasal bridge	Ibland (5–29 %)
Downturned corners of mouth	Ibland (5–29 %)
Early closure of midline skull joint	Ibland (5–29 %)
Facial asymmetry	Ibland (5–29 %)
Frontal bossing	Ibland (5–29 %)
Full cheeks	Ibland (5–29 %)
Metopic synostosis	Ibland (5–29 %)
Narrow forehead	Ibland (5–29 %)
Short philtrum	Ibland (5–29 %)
Smooth philtrum	Ibland (5–29 %)
Submucous cleft hard palate	Ibland (5–29 %)
Submucous cleft soft palate	Ibland (5–29 %)
Wide nasal bridge	Ibland (5–29 %)
Abnormal dentition	Inte registrerat
High palate	Inte registrerat
Narrow mouth	Inte registrerat

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Low muscle tone, in neonatal onset	Alltid
Decreased muscle tone in infant	Ofta (30–79 %)
Double-Jointed	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Cervical ribs	Ibland (5–29 %)
Excessive inward curvature of lower spine	Ibland (5–29 %)
Flexed joint that cannot be straightened	Ibland (5–29 %)
Hyperextensibility at elbow	Ibland (5–29 %)
Hyperextensible hand joints	Ibland (5–29 %)
Involuntary muscle stiffness, contraction, or spasm	Ibland (5–29 %)
Kyphoscoliosis	Ibland (5–29 %)
Missing part of vertebrae	Ibland (5–29 %)
Rib fusion	Ibland (5–29 %)
Scoliosis	Ibland (5–29 %)
Slender long bone	Ibland (5–29 %)
Hunched back	Inte registrerat

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Deeply set eye	Mycket ofta (80–99 %)
Cross-eyed	Ofta (30–79 %)
Farsightedness	Ofta (30–79 %)
Blue outer white part of eyeball	Ibland (5–29 %)
Cerebral visual impairment	Ibland (5–29 %)
Close sighted	Ibland (5–29 %)
Involuntary, rapid, rhythmic eye movements	Ibland (5–29 %)
Inward turning cross eyed	Ibland (5–29 %)
Optic atrophy	Ibland (5–29 %)
Optic nerve hypoplasia	Ibland (5–29 %)
Outward facing eye ball	Ibland (5–29 %)
Progressive loss of vision	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Feeding difficulties	Alltid
Feeding difficulties in infancy	Alltid
Intestinal atresia	Alltid
Absent gallbladder	Ibland (5–29 %)
Acid reflux	Ibland (5–29 %)
Chronic diarrhea	Ibland (5–29 %)
Delayed gastric emptying	Ibland (5–29 %)
Gastrointestinal dysmotility	Ibland (5–29 %)
Gastrostomy tube feeding in infancy	Ibland (5–29 %)
Poor swallowing	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Aortic regurgitation	Alltid
Abnormality of the common carotid artery	Ibland (5–29 %)
Abnormality of the heart	Ibland (5–29 %)
An opening in the wall separating the top two chambers of the heart	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Ibland (5–29 %)
Ischemic stroke	Ibland (5–29 %)
Mini stroke	Ibland (5–29 %)
Patent ductus arteriosus	Ibland (5–29 %)
Patent ductus arteriosus after birth at term	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Growth delay	Alltid
Faltering weight	Ofta (30–79 %)
Faltering weight in infancy	Ofta (30–79 %)
Prenatal growth deficiency	Ofta (30–79 %)
Proportionate short stature	Ofta (30–79 %)
Short stature	Ofta (30–79 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Increased urine output	Alltid
Abnormality of the genitourinary system	Ofta (30–79 %)
Absent kidney on one side	Ibland (5–29 %)
Bilateral renal dysplasia	Ibland (5–29 %)
Horseshoe kidney	Ibland (5–29 %)

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Absent thumb	Ibland (5–29 %)
Long slender fingers	Ibland (5–29 %)
Short foot	Inte registrerat
Small hand	Inte registrerat

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Prominent ear	Alltid
Hearing impairment	Ibland (5–29 %)
Low-set ears	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Curly hair	Alltid
Hyperelastic skin	Alltid
Soft, doughy skin	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Emphysema	Ibland (5–29 %)
Respiratory failure	Ibland (5–29 %)
Unilateral lung agenesis	Ibland (5–29 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Decreased circulating IgG concentration	Ibland (5–29 %)
Decreased secretory IgA concentration	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Feet or buttocks of fetus positioned near opening of uterus	Alltid
Fetal distress	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Recurrent infections	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till SON och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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