Approved symbol | MPDU1 |
---|---|
Approved name | mannose-P-dolichol utilization defect 1 |
HGCN ID | HGNC:7207 |
Previous symbols | |
Inheritance | |
OMIM | 604041 |
Chromosome | 17p13.1 |
Panel(s) |
NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) |