Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 16-11-2017 |
Symbol | JBTS32 |
Location | 10q24.32 |
Name | Joubert syndrome 32 |
Corresponding gene | SUFU |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | eye |
mental retardation | |
osteo-articular | |
neurology | |
Type | disease |
Remark(s) |