Traits

Traits linked to PAX7

paired box 7

The Human Phenotype Ontology links 28 traits to PAX7, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Bell-shaped thorax	Sometimes (5–29%)
Congenital contracture	Sometimes (5–29%)
Alveolar rhabdomyosarcoma	Not recorded
Decreased lung function due to weak breathing muscles	Not recorded
Muscle degeneration	Not recorded
Muscle weakness	Not recorded
Scoliosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Often (30–79%)
Triangular face	Often (30–79%)
Decreased facial muscle tone	Sometimes (5–29%)
Flat nose	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Kidney degeneration	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Absent reflexes	Often (30–79%)
Motor delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Gaze-evoked horizontal nystagmus	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	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 PAX7 and how often each is seen. Find out more at hpo.jax.org.

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