creatine transporter deficiency (MONDO_0010305) can be described as follows. X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. Also known as: SLC6A8 deficiency, cerebral creatine deficiency syndrome 1, cerebral creatine deficiency syndrome 1, X-linked recessive, cerebral creatine deficiency syndrome type 1.