Traits

Traits linked to CMPK2

cytidine/uridine monophosphate kinase 2

The Human Phenotype Ontology links 41 traits to CMPK2, 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
CSF pleocytosis	Always
Globus pallidus calcification	Always
Thalamic calcification	Always
Anxiety	Often (30–79%)
Ataxia	Often (30–79%)
Bilateral basal ganglia lesions	Often (30–79%)
Choreoathetosis	Often (30–79%)
Cognitive impairment	Often (30–79%)
Dementia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Epilepsy	Often (30–79%)
Headache	Often (30–79%)
Personality changes	Often (30–79%)
Psychosis	Often (30–79%)
Slow movements	Often (30–79%)
Tremor	Often (30–79%)
Worsening neurological symptoms	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Poor concentration	Sometimes (5–29%)
Slurred speech	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cerebellar calcifications	Always
Basal ganglia calcification	Often (30–79%)
Intracerebral periventricular calcifications	Often (30–79%)
Rigidity	Often (30–79%)
Muscle spasm	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Difficulty getting a full erection	Sometimes (5–29%)
Urinary urgency	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Often (30–79%)
Central nervous system infection	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Expressionless face	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating metabolite concentration	Not recorded

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 CMPK2 and how often each is seen. Find out more at hpo.jax.org.

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