| Approved symbol | CRPPA |
|---|---|
| Approved name | CDP-L-ribitol pyrophosphorylase A |
| HGCN ID | HGNC:37276 |
| Previous symbols | ISPD |
| Inheritance | |
| OMIM | 614631 |
| Chromosome | 7p21.2 |
| Panel(s) |
NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Mendeliome NGS Muscle disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |
