Approved symbol | OFD1 |
---|---|
Approved name | OFD1 centriole and centriolar satellite protein |
HGCN ID | HGNC:2567 |
Previous symbols | CXorf5, RP23 |
Inheritance | |
OMIM | 300170 |
Chromosome | Xp22.2 |
Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Epilepsie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Primaire ciliaire dyskinesie PCD NGS Retinitis pigmentosa NGS Skeletdysplasie NGS Visus pakket Retinale genen |