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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