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	Cât de frecvent apare
Abnormal gait	Întotdeauna
Babinski sign	Întotdeauna
Brisk reflexes	Întotdeauna
Falls	Întotdeauna
Increased reflexes	Întotdeauna
Motor delay	Întotdeauna
Overactive lower leg reflex	Întotdeauna
Positive Romberg sign	Întotdeauna
Toe walking	Întotdeauna
Degeneration of the lateral corticospinal tracts	Foarte des (80–99%)
Motor axonal neuropathy	Foarte des (80–99%)
Action tremor	Des (30–79%)
Clonus	Des (30–79%)
Epilepsy	Des (30–79%)
Impaired proprioception	Des (30–79%)
Impaired vibration sensation in the lower limbs	Des (30–79%)
Limb ataxia	Des (30–79%)
Spinal cord lesion	Des (30–79%)
Degeneration of the spinal cord	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Upper limb hyperreflexia	Uneori (5–29%)
Abnormal cerebrospinal fluid morphology	Neînregistrat
Abnormal lower-limb motor evoked potentials	Neînregistrat
Knee clonus	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Abnormal rhythmic movements of ankle	Întotdeauna
Absent ankle reflexes	Întotdeauna
Distal lower limb muscle weakness	Întotdeauna
Distal upper limb muscle weakness	Întotdeauna
Leg muscle stiffness	Întotdeauna
Lower limb hypertonia	Întotdeauna
Lower limb muscle weakness	Întotdeauna
Distal upper limb amyotrophy	Foarte des (80–99%)
Foot drop	Foarte des (80–99%)
Dropped arches	Des (30–79%)
Hammertoe	Des (30–79%)
High-arched foot	Des (30–79%)
Proximal lower limb muscle weakness	Des (30–79%)
Weakness of long finger extensor muscles	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Distal lower limb amyotrophy	Întotdeauna
Frequent falls	Întotdeauna
Lower limb spasticity	Întotdeauna
Scissor gait	Întotdeauna
Spastic walk	Întotdeauna
Progressive spastic paraplegia	Foarte des (80–99%)
Fatty replacement of skeletal muscle	Des (30–79%)
Lower limb amyotrophy	Des (30–79%)
Muscle spasm	Des (30–79%)
Muscle degeneration	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Uncontrollable movement in upper arms	Rar (1–4%)
EMG abnormality	Neînregistrat
Spastic paraplegia	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Loss of bladder control	Foarte des (80–99%)
Dull burning sensation with urination	Des (30–79%)
Female sexual dysfunction	Des (30–79%)
Frequent urinary tract infections	Des (30–79%)
Male sexual dysfunction	Des (30–79%)
Urinary bladder sphincter dysfunction	Des (30–79%)
Urinary urgency	Des (30–79%)

Abnormality of the eye

Trait	Cât de frecvent apare
Clouding of the lens of the eye	Des (30–79%)
Double vision	Des (30–79%)
Visual impairment	Des (30–79%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Chronic constipation	Întotdeauna
Loss of bowel control	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Pneumonia	Întotdeauna

Constitutional symptom

Trait	Cât de frecvent apare
Muscle ache	Întotdeauna

Laboratory abnormality

Trait	Cât de frecvent apare
Elevated blood creatine phosphokinase	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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