Traits

Traits linked to JAG2

jagged canonical Notch ligand 2

The Human Phenotype Ontology links 26 traits to JAG2, 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
EMG: myopathic abnormalities	Very often (80–99%)
Muscular dystrophy	Very often (80–99%)
Neck muscle weakness	Very often (80–99%)
Muscle degeneration	Often (30–79%)
Reduced spine movement	Often (30–79%)
Scoliosis	Often (30–79%)
Increased skeletal muscle cells	Sometimes (5–29%)
Increased variability in muscle fiber diameter	Sometimes (5–29%)
Shoulder flexion contracture	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Proximal lower limb muscle weakness	Always
Proximal upper limb muscle weakness	Always
Distal lower limb muscle weakness	Often (30–79%)
Distal upper limb muscle weakness	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Elbow flexion contracture	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Loss of ability to walk	Often (30–79%)
Delayed speech and language development	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Autism spectrum disorder	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)
Wolff-Parkinson-White syndrome	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Reduced forced vital capacity	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)

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 JAG2 and how often each is seen. Find out more at hpo.jax.org.

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