Traits

Traits linked to SON

SON DNA and RNA binding protein

The Human Phenotype Ontology links 138 traits to SON, by body system: features seen in people with one of the gene's rare conditions.

SON

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Decreased size of maxilla	Always
Prominent forehead	Always
Relatively large head	Always
Short nose	Always
Sparse eyebrow	Always
Abnormal facial shape	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
Bifid uvula	Sometimes (5–29%)
Broad eyebrow	Sometimes (5–29%)
Broad lateral eyebrow	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Early closure of midline skull joint	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
Metopic synostosis	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Submucous cleft soft palate	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Abnormal dentition	Not recorded
High palate	Not recorded
Narrow mouth	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to crawl	Always
Delayed ability to roll over	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Global developmental delay	Always
Intellectual disability	Always
Intellectual disability, severe	Always
Abnormal shape of brain	Very often (80–99%)
Abnormal cerebral cortex morphology	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Cerebellar hemisphere hypoplasia	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Hallucinations of sound	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Progressive ventriculomegaly	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Small cerebellum	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Always
Decreased muscle tone in infant	Often (30–79%)
Double-Jointed	Often (30–79%)
Low muscle tone	Often (30–79%)
Cervical ribs	Sometimes (5–29%)
Excessive inward curvature of lower spine	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hyperextensibility at elbow	Sometimes (5–29%)
Hyperextensible hand joints	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Missing part of vertebrae	Sometimes (5–29%)
Rib fusion	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Slender long bone	Sometimes (5–29%)
Hunched back	Not recorded

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Very often (80–99%)
Cross-eyed	Often (30–79%)
Farsightedness	Often (30–79%)
Blue outer white part of eyeball	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Progressive loss of vision	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Feeding difficulties in infancy	Always
Intestinal atresia	Always
Absent gallbladder	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Chronic diarrhea	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Gastrointestinal dysmotility	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Always
Abnormality of the common carotid artery	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent ductus arteriosus after birth at term	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Faltering weight	Often (30–79%)
Faltering weight in infancy	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Proportionate short stature	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Increased urine output	Always
Abnormality of the genitourinary system	Often (30–79%)
Absent kidney on one side	Sometimes (5–29%)
Bilateral renal dysplasia	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Absent thumb	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Short foot	Not recorded
Small hand	Not recorded

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Always
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Curly hair	Always
Hyperelastic skin	Always
Soft, doughy skin	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Emphysema	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)
Unilateral lung agenesis	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Sometimes (5–29%)
Decreased secretory IgA concentration	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Always
Fetal distress	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SON and how often each is seen. Find out more at hpo.jax.org.

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