Traits

Traits linked to RRP12

ribosomal RNA processing 12 homolog

The Human Phenotype Ontology links 59 traits to RRP12, 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
Can't control feelings	Always
Difficulty articulating speech	Always
Diffuse leukoencephalopathy	Always
Generalized brain degeneration	Always
Generalized-onset seizure	Always
Headache	Always
Impaired executive functioning	Always
Incoordination	Always
Leukoencephalopathy	Always
Loss of ability to walk	Always
Loss of articulate speech	Always
Memory impairment	Always
Seizure affecting one half of brain	Always
Stuttering	Always
Tetraparesis	Always
Thalamic calcification	Always
Anxiety	Often (30–79%)
Bilateral basal ganglia lesions	Often (30–79%)
Choreoathetosis	Often (30–79%)
Dementia	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Mental deterioration	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%)
Ataxia	Sometimes (5–29%)
Bipolar disorder	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Parkinsonism	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
Abnormal deposits of calcium in the brain	Always
Basal ganglia calcification	Always
Cerebellar calcifications	Always
Subcortical white matter calcifications	Always
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Rigidity	Often (30–79%)
Muscle spasm	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Expressionless face	Often (30–79%)
Abnormally small head	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Always
Ringing in ears	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 blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Sometimes (5–29%)

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 eye

Trait	How often it is seen
Clouding of the lens of the eye	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Central nervous system infection	Not recorded

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 RRP12 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test