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

Trait	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Elevated brain guanidinoacetate level by MRS	Întotdeauna
Intellectual disability, severe	Întotdeauna
Severe global developmental delay	Întotdeauna
Epilepsy	Foarte des (80–99%)
Abnormality of extrapyramidal motor function	Des (30–79%)
Abnormality of movement	Des (30–79%)
Absent speech development	Des (30–79%)
Aggressive behavior	Des (30–79%)
Ataxia	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Poor speech	Des (30–79%)
Progressive extrapyramidal movement disorder	Des (30–79%)
Sudden loss of muscle tone	Des (30–79%)
Abnormal head movements	Uneori (5–29%)
Autism	Uneori (5–29%)
Chorea	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Focal impaired awareness seizure	Uneori (5–29%)
Generalized myoclonic seizure	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Partial paralysis of legs	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Tremor	Uneori (5–29%)
Global developmental delay	Neînregistrat
Increased reflexes	Neînregistrat
Intellectual disability	Neînregistrat
Jerking	Neînregistrat
Reduced brain creatine level by MRS	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Întotdeauna
Rigidity	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Lower limb spasticity	Uneori (5–29%)
Decreased muscle tone in infant	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Decreased serum creatinine	Întotdeauna
Elevated circulating guanidinoacetic acid concentration	Întotdeauna
Reduced tissue guanidinoacetate methyltransferase activity	Întotdeauna
Decreased urinary creatine level	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Episodic vomiting	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 GAMT and how often each is seen. Find out more at hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu