Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 26-08-2016 |
Symbol | PCH2F |
Location | 1q25.3 |
Name | pontocerebellar hypoplasia 2F |
Corresponding gene | TSEN15 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
mental retardation | |
Type | disease |
Remark(s) |