Traits

Traits linked to CCDC134

coiled-coil domain containing 134

The Human Phenotype Ontology links 14 traits to CCDC134, 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 solidness and mass of the bones	Always
Recurrent fractures	Always
Slender long bone	Always
Thin bony cortex	Always
Multiple fractures present at birth	Often (30–79%)
Multiple small vertebral fractures	Often (30–79%)
Pseudoarthrosis	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Prenatal growth deficiency	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Extra bones within cranial sutures	Always

Abnormality of limbs

Trait	How often it is seen
Bowing of the long bones	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating osteocalcin level	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	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 CCDC134 and how often each is seen. Find out more at hpo.jax.org.

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