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	Kui sageli seda täheldatakse
Abnormal gait	Alati
Babinski sign	Alati
Brisk reflexes	Alati
Falls	Alati
Increased reflexes	Alati
Motor delay	Alati
Overactive lower leg reflex	Alati
Positive Romberg sign	Alati
Toe walking	Alati
Degeneration of the lateral corticospinal tracts	Väga sageli (80–99%)
Motor axonal neuropathy	Väga sageli (80–99%)
Action tremor	Sageli (30–79%)
Clonus	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Impaired proprioception	Sageli (30–79%)
Impaired vibration sensation in the lower limbs	Sageli (30–79%)
Limb ataxia	Sageli (30–79%)
Spinal cord lesion	Sageli (30–79%)
Degeneration of the spinal cord	Mõnikord (5–29%)
Delayed ability to walk	Mõnikord (5–29%)
Upper limb hyperreflexia	Mõnikord (5–29%)
Abnormal cerebrospinal fluid morphology	Pole registreeritud
Abnormal lower-limb motor evoked potentials	Pole registreeritud
Knee clonus	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Abnormal rhythmic movements of ankle	Alati
Absent ankle reflexes	Alati
Distal lower limb muscle weakness	Alati
Distal upper limb muscle weakness	Alati
Leg muscle stiffness	Alati
Lower limb hypertonia	Alati
Lower limb muscle weakness	Alati
Distal upper limb amyotrophy	Väga sageli (80–99%)
Foot drop	Väga sageli (80–99%)
Dropped arches	Sageli (30–79%)
Hammertoe	Sageli (30–79%)
High-arched foot	Sageli (30–79%)
Proximal lower limb muscle weakness	Sageli (30–79%)
Weakness of long finger extensor muscles	Sageli (30–79%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Distal lower limb amyotrophy	Alati
Frequent falls	Alati
Lower limb spasticity	Alati
Scissor gait	Alati
Spastic walk	Alati
Progressive spastic paraplegia	Väga sageli (80–99%)
Fatty replacement of skeletal muscle	Sageli (30–79%)
Lower limb amyotrophy	Sageli (30–79%)
Muscle spasm	Sageli (30–79%)
Muscle degeneration	Mõnikord (5–29%)
Prominent swayback	Mõnikord (5–29%)
Uncontrollable movement in upper arms	Harva (1–4%)
EMG abnormality	Pole registreeritud
Spastic paraplegia	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Loss of bladder control	Väga sageli (80–99%)
Dull burning sensation with urination	Sageli (30–79%)
Female sexual dysfunction	Sageli (30–79%)
Frequent urinary tract infections	Sageli (30–79%)
Male sexual dysfunction	Sageli (30–79%)
Urinary bladder sphincter dysfunction	Sageli (30–79%)
Urinary urgency	Sageli (30–79%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Sageli (30–79%)
Double vision	Sageli (30–79%)
Visual impairment	Sageli (30–79%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Chronic constipation	Alati
Loss of bowel control	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Pneumonia	Alati

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Muscle ache	Alati

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test