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GENATLAS PHENOTYPE |
last update : 06-07-2009 |
Symbol | BBS1 |
Location | 11q13.1 |
Name | Bardet-Biedl syndrome 1 |
Corresponding gene | BBS1 |
related resource | Retinal Information Network |
Other symbol(s) | BBS |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | congenital malformation |
eye | |
mental retardation | |
Type | disease |
Gene product |
Name | BBS1 protein |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
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| M390R mutation major in Newfoundland people
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Remark(s) |
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