Traits

Traits linked to RANBP2

RAN binding protein 2

The Human Phenotype Ontology links 28 traits to RANBP2, 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
Acute encephalopathy	Very often (80–99%)
Coma	Very often (80–99%)
Abnormal brainstem MRI signal intensity	Often (30–79%)
Abnormal gait	Often (30–79%)
Abnormal putamen morphology	Often (30–79%)
Abnormal shape of brainstem	Often (30–79%)
Abnormal thalamus morphology	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Epilepsy	Often (30–79%)
Gliosis	Often (30–79%)
Intellectual disability	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Paralysis of all four limbs	Sometimes (5–29%)
Encephalopathy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized muscle weakness	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Rigidity	Often (30–79%)
Spastic tetraplegia	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Increased CSF protein concentration	Very often (80–99%)
Brain swelling	Often (30–79%)
Fever	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of the immune system	Not recorded
Pneumonia	Not recorded

Abnormality of blood and blood-forming tissues

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

Abnormality of the digestive system

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

Abnormality of the eye

Trait	How often it is seen
Abnormal visual fixation	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	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 RANBP2 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