Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms GAMT deficiency Niedobór GAMT ORPHA code 382 OMIM code 612736 ICD10 code E72.8 ICD11 code 5C53.4 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl