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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 16-12-2015 |
Symbol | CHQL2 |
Location | 17p13.3 |
Name | cerebellar hypoplasia and quadrupedal locomotion 2 |
Other name(s) | cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2 |
Corresponding gene | WDR81 |
Other symbol(s) | CAMRQ2 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Remark(s) |