Traits

Traits linked to CCDC78

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The Human Phenotype Ontology links 10 traits to CCDC78, 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
Muscle weakness	Always
Centrally nucleated skeletal muscle fibers	Often (30–79%)
Frequent falls	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Low muscle tone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Very often (80–99%)
Muscle ache	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 CCDC78 and how often each is seen. Find out more at hpo.jax.org.

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