| Approved symbol | PMM2 |
|---|---|
| Approved name | phosphomannomutase 2 |
| HGCN ID | HGNC:9115 |
| Previous symbols | CDG1 |
| Inheritance | |
| OMIM | 601785 |
| Chromosome | 16p13.2 |
| Panel(s) |
NGS Bewegingsstoornissen NGS Cornelia de Lange NGS Epilepsie NGS Intellectual disability NGS Lymfoedeem NGS Mendelioom NGS Metabole aandoeningen NGS Pontocerebellaire hypoplasie PCH NGS Preconceptiepanel NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Primaire immunodeficientie PID |
