Guanidinoacetate methyltransferase deficiency
Name: |
Guanidinoacetate methyltransferase deficiency
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Description: |
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
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ORPHAcode: |
382
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Synonyms: |
GAMT deficiency
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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