Синдром Х-зчепленої епілепсії-порушення здатності до навчання-полрушення поведінки
ORPHA:85294· ICD-10 Q87.8· X-linked epilepsy-learning disabilities-behavior disorders syndrome
Визначення(English summary)
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
- Поширеність
- Unknown
- Успадкування
- X-linked recessive
- Вік початку
- Childhood