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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 09-01-2010 |
Symbol | JBTS1 |
Location | 9q34.3 |
HGNC id | 21089 |
Name | Joubert syndrome 1 |
Other name(s) |
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Corresponding gene | INPP5E |
Other symbol(s) | CORS1, CPD4 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Remark(s) | mutations caused missense changes that clustered within the enzymatically active phosphatase domain (Bielas 2009) |