| 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 Arthrogryposis 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 |
