Approved symbol | HPRT1 |
---|---|
Approved name | hypoxanthine phosphoribosyltransferase 1 |
HGCN ID | HGNC:5157 |
Previous symbols | HPRT |
Inheritance | |
OMIM | 308000 |
Chromosome | Xq26.2-q26.3 |
Panel(s) |
NGS Bewegingsstoornissen NGS Epilepsie NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen |