Traits

Traits linked to CDK6

cyclin dependent kinase 6

The Human Phenotype Ontology links 20 traits to CDK6, 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
Intellectual disability, mild	Always
Simplified gyral pattern	Always
Global developmental delay	Very often (80–99%)
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%)

Abnormality of head or neck

Trait	How often it is seen
Sloping forehead	Always
Small head present at birth	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	Very often (80–99%)
Short stature	Very often (80–99%)

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 CDK6 and how often each is seen. Find out more at hpo.jax.org.

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