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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 06-10-2014 |
Symbol | APOPT1D |
Location | 14q32.32 |
Name | APOPT1deficiency |
Corresponding gene | APOPT1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
mental retardation | |
Type | disease |
Remark(s) |