Traits

Traits linked to RYR3

ryanodine receptor 3

The Human Phenotype Ontology links 35 traits to RYR3, 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
Centrally nucleated skeletal muscle fibers	Always
Difficulty running	Always
Difficulty walking up stairs	Always
Gowers sign	Always
Increased variability in muscle fiber diameter	Always
Proximal neurogenic muscle weakness	Always
Type 1 muscle fiber predominance	Always
Congenital contracture	Often (30–79%)
Elbow contracture	Often (30–79%)
Frequent falls	Often (30–79%)
Muscle degeneration	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Narrow face	Always
Weakness of facial musculature	Always
Broad forehead	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Prominent forehead	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Winged shoulder blade	Always
Club feet	Often (30–79%)
Hip dislocation	Often (30–79%)
Short finger	Often (30–79%)
Toe joint contracture	Often (30–79%)
Ulnar deviation of the hand	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Echogenic intracardiac focus	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 RYR3 and how often each is seen. Find out more at hpo.jax.org.

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