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Traits
Traits linked to PAX3
paired box 3
The Human Phenotype Ontology links 91 traits to PAX3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Bilateral wrist flexion contracture | Always |
| Flexion contracture of finger | Always |
| Abnormalities of the fingers | Very often (80–99%) |
| Abnormality of the upper limb | Very often (80–99%) |
| Abnormality of the wrist | Very often (80–99%) |
| Finger bends toward pinky | Very often (80–99%) |
| Fusion of wrist bones | Very often (80–99%) |
| Ulnar deviation of the wrist | Very often (80–99%) |
| Webbed fingers | Very often (80–99%) |
| Permanent flexion of the finger | Often (30–79%) |
| Upper limb amyotrophy | Often (30–79%) |
| Curvature of digit | Not recorded |
| Fused wrist bones | Not recorded |
| Joint contracture of the hand | Not recorded |
| Short fingers or toes | Not recorded |
| Ulnar deviation of the hand | Not recorded |
| Winged shoulder blade | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Blue eyes | Always |
| Abnormality of tear production | Very often (80–99%) |
| Abnormality of the eye | Very often (80–99%) |
| Abnormality of vision | Very often (80–99%) |
| Different colored eyes | Very often (80–99%) |
| Wide-set eyes | Very often (80–99%) |
| Cross-eyed | Sometimes (5–29%) |
| Drooping upper eyelid | Sometimes (5–29%) |
| Fundus hypopigmentation | Not recorded |
| Hypoplastic iris stroma | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Partial absent skin pigmentation | Always |
| Premature graying of hair | Always |
| Loss of hair color | Very often (80–99%) |
| Patchy loss of skin color | Very often (80–99%) |
| White hair | Very often (80–99%) |
| White part of hair above forehead | Very often (80–99%) |
| Abnormality of the hair | Often (30–79%) |
| Axillary pterygium | Often (30–79%) |
| Persistent blue color of hands or feet | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Joint stiffness | Very often (80–99%) |
| High shoulder blade | Sometimes (5–29%) |
| Scoliosis | Sometimes (5–29%) |
| Spastic paraplegia | Sometimes (5–29%) |
| Alveolar rhabdomyosarcoma | Not recorded |
| Extra ribs | Not recorded |
| Supernumerary vertebrae | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed fine motor development | Always |
| Intellectual disability | Sometimes (5–29%) |
| Meningocele | Sometimes (5–29%) |
| Myelomeningocele | Sometimes (5–29%) |
| Split spine | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Always |
| Congenital sensorineural hearing impairment | Very often (80–99%) |
| Hearing impairment | Very often (80–99%) |
| Sensorineural hearing impairment | Very often (80–99%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiovascular system morphology | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Partial or complete collapse of part or entire lung | Often (30–79%) |
| Floppy windpipe | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged colon lacking nerve cells | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Absent vagina | Not recorded |
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 PAX3 and how often each is seen. Find out more at hpo.jax.org.
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