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 Foetale akinesie-deformatiesequentie FADS NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Pontocerebellaire hypoplasie PCH NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Spieraandoeningen |