Traits

Traits linked to CCDC88C

coiled-coil and HOOK domain protein 88C

The Human Phenotype Ontology links 21 traits to CCDC88C, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Explosive speech	Always
Lack of coordination of movement	Always
Pontocerebellar atrophy	Always
Too much cerebrospinal fluid in the brain	Always
Ventriculomegaly	Always
Abnormal speech pattern	Often (30–79%)
Ataxia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Difficulty performing quick and alternating movements	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Increased reflexes	Often (30–79%)
Intention tremor	Often (30–79%)
Tremor	Often (30–79%)
Unsteady walk	Often (30–79%)
Wide based walk	Often (30–79%)
Intellectual disability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Functional motor deficit	Often (30–79%)
Spastic paraparesis	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Vertical supranuclear gaze palsy	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 CCDC88C and how often each is seen. Find out more at hpo.jax.org.

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