Traits

Traits linked to CDC40

cell division cycle 40

The Human Phenotype Ontology links 23 traits to CDC40, 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
Delayed fine motor development	Always
Delayed motor skills	Always
Delayed social development	Always
Intellectual disability, severe	Always
Small brainstem	Always
Small cerebellum	Always
Brisk reflexes	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Partial agenesis of the corpus callosum	Often (30–79%)
Simplified gyral pattern	Often (30–79%)
Delayed CNS myelination	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)
Persistently decreased total neutrophil count	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic tetraplegia	Very often (80–99%)
Low muscle tone	Often (30–79%)
Spasticity and rigidity of muscles	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 CDC40 and how often each is seen. Find out more at hpo.jax.org.

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