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Traits
Traits linked to SOX9
SRY-box transcription factor 9
The Human Phenotype Ontology links 177 traits to SOX9, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the genitourinary system
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Depressed nasal bridge | Always |
| Little lower jaw | Always |
| Midface retrusion | Always |
| Big calvaria | Very often (80–99%) |
| Cleft palate | Very often (80–99%) |
| Flat face | Very often (80–99%) |
| Retraction of the tongue | Very often (80–99%) |
| Short neck | Very often (80–99%) |
| Relatively large head | Often (30–79%) |
| Abnormality of the sense of smell | Sometimes (5–29%) |
| Blockage of the rear opening of the nasal cavity | Sometimes (5–29%) |
| Dental cavities | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Irregular teeth | Sometimes (5–29%) |
| Long philtrum | Sometimes (5–29%) |
| Narrow mouth | Sometimes (5–29%) |
| Recurrent colds | Sometimes (5–29%) |
| Submucous cleft hard palate | Sometimes (5–29%) |
| Flat nose | Not recorded |
| High forehead | Not recorded |
| Narrow opening between the eyelids | Not recorded |
| Short opening between the eyelids | Not recorded |
| Small face | Not recorded |
| Wider-than-typical soft spot of skull | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Cervical spine instability | Always |
| Rounded neck | Always |
| 11 pairs of ribs | Very often (80–99%) |
| Hypoplastic inferior ilia | Very often (80–99%) |
| Narrow chest | Very often (80–99%) |
| Osteoporosis | Very often (80–99%) |
| Poorly ossified cervical vertebrae | Very often (80–99%) |
| Recurrent fractures | Very often (80–99%) |
| Scoliosis | Very often (80–99%) |
| Short long bone | Very often (80–99%) |
| Small abnormally formed shoulder blade | Very often (80–99%) |
| Kyphoscoliosis | Often (30–79%) |
| Small shoulder blade | Often (30–79%) |
| Delayed bone maturation | Sometimes (5–29%) |
| Delayed maturation of end part of long bone | Sometimes (5–29%) |
| Double-Jointed | Sometimes (5–29%) |
| Hunched back | Sometimes (5–29%) |
| Low muscle tone | Sometimes (5–29%) |
| Narrow iliac wing | Sometimes (5–29%) |
| Pigeon chest | Sometimes (5–29%) |
| Thoracic scoliosis | Sometimes (5–29%) |
| Absent bone maturation in sternum | Not recorded |
| Hypoplastic cervical vertebrae | Not recorded |
| Hypoplastic iliac wing | Not recorded |
| Small chest | Not recorded |
| Thin ribs | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Bowed shankbone | Very often (80–99%) |
| Bowing of the long bones | Very often (80–99%) |
| Hip dislocation | Very often (80–99%) |
| Short calf bone | Very often (80–99%) |
| Bowed thighbone | Often (30–79%) |
| Club feet | Often (30–79%) |
| Club foot on both sides | Often (30–79%) |
| Dislocated radial head | Often (30–79%) |
| Shortened 1st long bone of hand | Often (30–79%) |
| Small kneecap | Often (30–79%) |
| Anterior tibial bowing | Sometimes (5–29%) |
| Bunion | Sometimes (5–29%) |
| Contracture of the distal interphalangeal joint of the fingers | Sometimes (5–29%) |
| Dropped arches | Sometimes (5–29%) |
| Front half of foot turns inward | Sometimes (5–29%) |
| Short finger bones | Sometimes (5–29%) |
| Short toe bones | Not recorded |
| Shortening of all finger bones | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Floppy windpipe | Very often (80–99%) |
| Respiratory function loss | Very often (80–99%) |
| Softening of voice box tissue | Very often (80–99%) |
| Tracheobronchomalacia | Very often (80–99%) |
| Apnea | Often (30–79%) |
| Low blood oxygen level | Often (30–79%) |
| Neonatal respiratory distress | Often (30–79%) |
| Noisy breathing | Often (30–79%) |
| Upper airway obstruction | Often (30–79%) |
| Bronchomalacia | Sometimes (5–29%) |
| Narrowing of windpipe | Sometimes (5–29%) |
| Subglottic stenosis | Sometimes (5–29%) |
| Breathing difficulties | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased serum testosterone level | Always |
| Elevated circulating follicle stimulating hormone level | Always |
| Elevated circulating luteinizing hormone level | Always |
| Decreased function of male gonad | Very often (80–99%) |
| Decreased serum estradiol | Very often (80–99%) |
| Hypergonadotropic hypogonadism | Very often (80–99%) |
| Hypogonadotropic hypogonadism | Very often (80–99%) |
| Increased circulating gonadotropin level | Very often (80–99%) |
| Delayed puberty | Often (30–79%) |
| Absence of secondary sex characteristics | Sometimes (5–29%) |
| Adrenal insufficiency | Sometimes (5–29%) |
| Primary gonadal insufficiency | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Epilepsy | Sometimes (5–29%) |
| Global developmental delay | Sometimes (5–29%) |
| Hypoplasia of olfactory tract | Sometimes (5–29%) |
| Mild global developmental delay | Sometimes (5–29%) |
| Moderate global developmental delay | Sometimes (5–29%) |
| Pauses in breathing while sleeping | Sometimes (5–29%) |
| Spinal dysraphism | Sometimes (5–29%) |
| Split spine | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Limited armpit hair | Very often (80–99%) |
| Sparse pubic hair | Very often (80–99%) |
| Pretibial dimple | Often (30–79%) |
| Skin dimple | Often (30–79%) |
| Blue discoloration of the skin | Sometimes (5–29%) |
| Short nail | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| Cor pulmonale | Sometimes (5–29%) |
| increased pulmonary artery pressure | Sometimes (5–29%) |
| Abnormality of the heart | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Often (30–79%) |
| Short stature | Often (30–79%) |
| Disproportionate short-limb short stature | Not recorded |
| Neonatal short-limb short stature | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties in infancy | Often (30–79%) |
| Feeding difficulties | Sometimes (5–29%) |
| Poor swallowing | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Conductive deafness | Often (30–79%) |
| Low-set ears | Often (30–79%) |
| Hearing impairment | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Very often (80–99%) |
| Bulging eye | Often (30–79%) |
| Close sighted | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Often (30–79%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Enlarged male breast | Very often (80–99%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Recurrent chest 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 SOX9 and how often each is seen. Find out more at hpo.jax.org.
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