Х-зчеплений дефіцит транспортера креатину
ORPHA:52503· ICD-10 E72.8· X-linked creatine transporter deficiency
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Not applicable, X-linked recessive
- Вік початку
- Childhood, Infancy