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.
MONDO:0000456
cerebral creatine deficiency syndrome
is_a
MONDO:0045018
creatine biosynthetic process disease
is_a
CCDS2
related
GAMT deficiency
exact
cerebral creatine deficiency syndrome 2
exact
cerebral creatine deficiency syndrome type 2
exact
disorder of guanidinoacetate N-methyltransferase activity
exact
guanidinoacetate N-methyltransferase activity disease
exact
guanidinoacetate methyltransferase deficiency
exact
SPAC26A3.17c