Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Epilepsy, X-linked 1, with variable learning disabilities and behavior 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).
Also known as epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant, epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant, X-linked epilepsy-learning disabilities-behavior disorders syndrome — per MONDO