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Up to: Developmental anomaly of metabolic origin · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Cerebral creatine deficiency syndrome
Creatine transporter deficiency
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.
This condition has no sub-types.