Approved symbol | HPD |
---|---|
Approved name | 4-hydroxyphenylpyruvate dioxygenase |
HGCN ID | HGNC:5147 |
Previous symbols | PPD |
Inheritance | |
OMIM | 609695 |
Chromosome | 12q24.31 |
Panel(s) |
NGS Intellectual disability NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) |