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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 31-05-2017 |
Symbol | EPM3 |
Location | 7q11.21 |
Name | myoclonic epilepsy 3 |
Other name(s) | ceroid lipofuscinosis 14 |
Corresponding gene | KCTD7 |
Other symbol(s) | CLN14 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Remark(s) |