X-linked creatine transporter deficiency
ORPHA:52503· ICD-10 E72.8
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Not applicable, X-linked recessive
- Age of onset
- Childhood, Infancy