Approved symbol | BBS1 |
---|---|
Approved name | Bardet-Biedl syndrome 1 |
HGCN ID | HGNC:966 |
Previous symbols | |
Inheritance | |
OMIM | 209901 |
Chromosome | 11q13.2 |
Panel(s) |
NGS Cone-rod dystrophy and macula degeneration NGS Intellectual disability NGS Leber’s congenital amaurosis LCA NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Retinitis pigmentosa NGS Vision disorder CSNB |