Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 26-08-2016 |
Symbol | CBLCA |
Location | 4p15.2 |
Name | cerebellocerebral atrophy, progressive |
Other name(s) | pontocerebellar hypoplasia 2D |
Corresponding gene | SEPSECS |
Other symbol(s) | PCH2D |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Remark(s) | . mutations resulting in disrupted selenoprotein biosynthesis in the brain of affected individuals |