Traits

Traits linked to CCDC88A

coiled-coil and HOOK domain protein 88A

The Human Phenotype Ontology links 30 traits to CCDC88A, 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
Absent speech development	Always
Degeneration of cerebellum	Always
Fewer and broader ridges in brain	Always
Fewer or absent grooves in brain	Always
Grand mal seizures	Always
Hypsarrhythmia	Always
Increased reflexes	Always
IQ less than 20	Always
Jerking	Always
More grooves in brain	Always
Profound global developmental delay	Always
Repeated seizures without recovery between them	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Infantile encephalopathy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
Full cheeks	Always
Narrow forehead	Always
Open mouth	Always
Progressively abnormally small cranium	Always
Receding chin	Always
Short nose	Always
Sloping forehead	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always
Visual fixation instability	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Low muscle tone, in neonatal onset	Always

Abnormality of limbs

Trait	How often it is seen
Tapered finger	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Always

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 CCDC88A and how often each is seen. Find out more at hpo.jax.org.

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