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X-linked epilepsy-learning disabilities-behavior disorders syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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).
Uniprot Description A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior.
Mondo Term and Equivalent IDs
MONDO:0010339:  X-linked epilepsy-learning disabilities-behavior disorders syndrome
MESH:C564505: 
Orphanet:85294: 
UMLS:C1845343: