Traits

Traits linked to TRMT2B

tRNA methyltransferase 2B

The Human Phenotype Ontology links 46 traits to TRMT2B, 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
Lou Gehrig's disease	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Abnormal speech pattern	Des (30–79%)
Arm dystonia	Des (30–79%)
Brisk reflexes	Des (30–79%)
Bulbar signs	Des (30–79%)
CNS hypomyelination	Des (30–79%)
Delayed ability to walk	Des (30–79%)
Dystonia	Des (30–79%)
Inability to walk	Des (30–79%)
Abnormality of the cerebellum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Axial dystonia	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Chorea	Uneori (5–29%)
Clonus	Uneori (5–29%)
Cognitive impairment	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Head titubation	Uneori (5–29%)
Loss of articulate speech	Uneori (5–29%)
Oromandibular dystonia	Uneori (5–29%)
Parkinsonism	Uneori (5–29%)
Toe walking	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Distal muscle wasting	Foarte des (80–99%)
Lower limb spasticity	Foarte des (80–99%)
Muscle degeneration	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Uncontrollable movement in upper arms	Foarte des (80–99%)
Lower-limb joint contracture	Des (30–79%)
Muscle fiber degeneration	Des (30–79%)
Spastic diplegia	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Upper-limb joint contracture	Des (30–79%)
Weakness of outermost muscles	Des (30–79%)
Neck flexion weakness	Uneori (5–29%)
Opisthotonus	Uneori (5–29%)
Proximal neurogenic muscle weakness	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Retrocollis	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Supranuclear gaze palsy	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Loss of bladder control	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Wasting syndrome	Uneori (5–29%)

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 TRMT2B and how often each is seen. Find out more at hpo.jax.org.

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