X-linked epilepsy-learning disabilities-behavior disorders syndrome

Orpha code: 85294OMIM code: 300491

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).

Disease data
Classification

Disease

ORPHA code
85294
OMIM code
300491
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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