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Up to: Cerebral creatine deficiency syndrome · Creatine biosynthetic process disease
Guanidinoacetate methyltransferase deficiency
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.
This condition has no sub-types.