Orphanet: X linked epilepsy learning disabilities behavior disorders syndrome

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Disease definition

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).

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X-linked epilepsy-learning disabilities-behavior disorders syndrome

ORPHA:85294

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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