label: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
label_lc: epilepsy, x-linked 1, with variable learning disabilities and behavior disorders
description: "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. 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)."