/epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Rare Disease

MONDO:0010339

Also Known As

X-linked epilepsy-learning disabilities-behavior disorders syndromeepilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominantepilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominantepilepsy, X-linked, with variable learning disabilities and behavior disordersepilepsy, X-linked, with variable learning disabilities and behaviour disorders

Definition

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).