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	Hvor ofte den forekommer
Lou Gehrig's disease	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Abnormal speech pattern	Ofte (30–79 %)
Arm dystonia	Ofte (30–79 %)
Brisk reflexes	Ofte (30–79 %)
Bulbar signs	Ofte (30–79 %)
CNS hypomyelination	Ofte (30–79 %)
Delayed ability to walk	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Inability to walk	Ofte (30–79 %)
Abnormality of the cerebellum	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Axial dystonia	Noen ganger (5–29 %)
Behavioral abnormality	Noen ganger (5–29 %)
Chorea	Noen ganger (5–29 %)
Clonus	Noen ganger (5–29 %)
Cognitive impairment	Noen ganger (5–29 %)
Global developmental delay	Noen ganger (5–29 %)
Head titubation	Noen ganger (5–29 %)
Loss of articulate speech	Noen ganger (5–29 %)
Oromandibular dystonia	Noen ganger (5–29 %)
Parkinsonism	Noen ganger (5–29 %)
Toe walking	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Distal muscle wasting	Svært ofte (80–99 %)
Lower limb spasticity	Svært ofte (80–99 %)
Muscle degeneration	Svært ofte (80–99 %)
Muscle weakness	Svært ofte (80–99 %)
Uncontrollable movement in upper arms	Svært ofte (80–99 %)
Lower-limb joint contracture	Ofte (30–79 %)
Muscle fiber degeneration	Ofte (30–79 %)
Spastic diplegia	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Upper-limb joint contracture	Ofte (30–79 %)
Weakness of outermost muscles	Ofte (30–79 %)
Neck flexion weakness	Noen ganger (5–29 %)
Opisthotonus	Noen ganger (5–29 %)
Proximal neurogenic muscle weakness	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Noen ganger (5–29 %)
Retrocollis	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Gastrostomy tube feeding in infancy	Noen ganger (5–29 %)
Poor swallowing	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Supranuclear gaze palsy	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Loss of bladder control	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Wasting syndrome	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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