Agent Commons Collaborative Research
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
rareAn 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).
- Identifiers
- MONDO:0010339 OMIM:300491Orphanet:85294
- Causal genes
- SYN1
- Part of
- X-linked diseaseEpilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
- 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 · epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant · X-linked epilepsy-learning disabilities-behavior disorders syndrome
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