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Traits

Traits linked to GAMT

guanidinoacetate N-methyltransferase

The Human Phenotype Ontology links 43 traits to GAMT, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHvor ofte det ses
Delayed speech and language developmentAltid
Elevated brain guanidinoacetate level by MRSAltid
Intellectual disability, severeAltid
Severe global developmental delayAltid
EpilepsyMeget ofte (80–99 %)
Abnormality of extrapyramidal motor functionOfte (30–79 %)
Abnormality of movementOfte (30–79 %)
Absent speech developmentOfte (30–79 %)
Aggressive behaviorOfte (30–79 %)
AtaxiaOfte (30–79 %)
Behavioral abnormalityOfte (30–79 %)
Poor speechOfte (30–79 %)
Progressive extrapyramidal movement disorderOfte (30–79 %)
Sudden loss of muscle toneOfte (30–79 %)
Abnormal head movementsNogle gange (5–29 %)
AutismNogle gange (5–29 %)
ChoreaNogle gange (5–29 %)
DystoniaNogle gange (5–29 %)
Febrile seizure (within the age range of 3 months to 6 years)Nogle gange (5–29 %)
Focal impaired awareness seizureNogle gange (5–29 %)
Generalized myoclonic seizureNogle gange (5–29 %)
Grand mal seizuresNogle gange (5–29 %)
Involuntary writhing movements in fingers, hands, toes, and feetNogle gange (5–29 %)
Loss of developmental milestonesNogle gange (5–29 %)
More active than typicalNogle gange (5–29 %)
Partial paralysis of legsNogle gange (5–29 %)
Self-injurious behaviorNogle gange (5–29 %)
TremorNogle gange (5–29 %)
Global developmental delayIkke registreret
Increased reflexesIkke registreret
Intellectual disabilityIkke registreret
JerkingIkke registreret
Reduced brain creatine level by MRSIkke registreret

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneAltid
RigidityOfte (30–79 %)
Spasticity and rigidity of musclesOfte (30–79 %)
Lower limb spasticityNogle gange (5–29 %)
Decreased muscle tone in infantIkke registreret

Laboratory abnormality

TraitHvor ofte det ses
Decreased serum creatinineAltid
Elevated circulating guanidinoacetic acid concentrationAltid
Reduced tissue guanidinoacetate methyltransferase activityAltid
Decreased urinary creatine levelIkke registreret

Abnormality of the digestive system

TraitHvor ofte det ses
Episodic vomitingNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to GAMT and how often each is seen. Find out more at hpo.jax.org.

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