Traits

Traits linked to RTN2

reticulon 2

The Human Phenotype Ontology links 67 traits to RTN2, 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
Abnormal gait	Always
Babinski sign	Always
Brisk reflexes	Always
Falls	Always
Increased reflexes	Always
Motor delay	Always
Overactive lower leg reflex	Always
Positive Romberg sign	Always
Toe walking	Always
Degeneration of the lateral corticospinal tracts	Very often (80–99%)
Motor axonal neuropathy	Very often (80–99%)
Action tremor	Often (30–79%)
Clonus	Often (30–79%)
Epilepsy	Often (30–79%)
Impaired proprioception	Often (30–79%)
Impaired vibration sensation in the lower limbs	Often (30–79%)
Limb ataxia	Often (30–79%)
Spinal cord lesion	Often (30–79%)
Degeneration of the spinal cord	Sometimes (5–29%)
Delayed ability to walk	Sometimes (5–29%)
Upper limb hyperreflexia	Sometimes (5–29%)
Abnormal cerebrospinal fluid morphology	Not recorded
Abnormal lower-limb motor evoked potentials	Not recorded
Knee clonus	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Always
Absent ankle reflexes	Always
Distal lower limb muscle weakness	Always
Distal upper limb muscle weakness	Always
Leg muscle stiffness	Always
Lower limb hypertonia	Always
Lower limb muscle weakness	Always
Distal upper limb amyotrophy	Very often (80–99%)
Foot drop	Very often (80–99%)
Dropped arches	Often (30–79%)
Hammertoe	Often (30–79%)
High-arched foot	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Weakness of long finger extensor muscles	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal lower limb amyotrophy	Always
Frequent falls	Always
Lower limb spasticity	Always
Scissor gait	Always
Spastic walk	Always
Progressive spastic paraplegia	Very often (80–99%)
Fatty replacement of skeletal muscle	Often (30–79%)
Lower limb amyotrophy	Often (30–79%)
Muscle spasm	Often (30–79%)
Muscle degeneration	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Uncontrollable movement in upper arms	Rarely (1–4%)
EMG abnormality	Not recorded
Spastic paraplegia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Very often (80–99%)
Dull burning sensation with urination	Often (30–79%)
Female sexual dysfunction	Often (30–79%)
Frequent urinary tract infections	Often (30–79%)
Male sexual dysfunction	Often (30–79%)
Urinary bladder sphincter dysfunction	Often (30–79%)
Urinary urgency	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Double vision	Often (30–79%)
Visual impairment	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Loss of bowel control	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Always

Constitutional symptom

Trait	How often it is seen
Muscle ache	Always

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always

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 RTN2 and how often each is seen. Find out more at hpo.jax.org.

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