AGAT deficiency
L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
MONDO:0000456
cerebral creatine deficiency syndrome
is_a
MONDO:0045018
creatine biosynthetic process disease
is_a
AGAT deficiency
exact
CCDS3
exact
GATM deficiency
exact
L-arginine:glycine amidinotransferase deficiency
exact
arginine:glycine amidinotransferase deficiency
exact
cerebral creatine deficiency syndrome 3
exact
cerebral creatine deficiency syndrome type 3
exact
creatine deficiency syndrome due to AGAT deficiency
exact
disorder of glycine amidinotransferase activity
exact
glycine amidinotransferase activity disease
exact