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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 26-10-2018 |
Symbol | JBTS33 |
Location | 13q22.1 |
Name | Joubert syndrome 33 |
Corresponding gene | PIBF1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | eye |
neurology | |
kidney and urinary tract | |
Type | disease |
Remark(s) |