Approved symbol | CAD |
---|---|
Approved name | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
HGCN ID | HGNC:1424 |
Previous symbols | |
Inheritance | |
OMIM | 114010 |
Chromosome | 2p23.3 |
Panel(s) |
NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) |