Traits

Traits linked to CDK5RAP2

CDK5 regulatory subunit associated protein 2

The Human Phenotype Ontology links 26 traits to CDK5RAP2, 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
Global developmental delay	Always
IQ between 34 and 49	Always
Partial agenesis of the corpus callosum	Always
Simplified gyral pattern	Always
Gray matter heterotopia	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Small cerebral cortex	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Prominent nose	Always
Sloping forehead	Always
Small head present at birth	Always
Widely spaced teeth	Always
Abnormally small head	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Always

Abnormality of the ear

Trait	How often it is seen
Mixed hearing impairment	Always

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal cortical bone morphology	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 CDK5RAP2 and how often each is seen. Find out more at hpo.jax.org.

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