Approved symbol | BBS12 |
---|---|
Approved name | Bardet-Biedl syndrome 12 |
HGCN ID | HGNC:26648 |
Previous symbols | C4orf24 |
Inheritance | |
OMIM | 610683 |
Chromosome | 4q27 |
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 |