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GENATLAS PHENOTYPE |
last update : 23-10-2018 |
Symbol | SICACCH |
Location | 7q22.1 |
Name | infantile spasms, cerebellar abnormalities, corpus callosum hypoplasia |
Corresponding gene | KPNA7 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Remark(s) |