Orphanet: X linked epilepsy learning disabilities behavior disorders syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

X-linked epilepsy-learning disabilities-behavior disorders syndrome

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).


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 300491
  • UMLS: C1845343
  • MeSH: -
  • GARD: -
  • MedDRA: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.