Approved symbol | PCBD1 |
---|---|
Approved name | pterin-4 alpha-carbinolamine dehydratase 1 |
HGCN ID | HGNC:8646 |
Previous symbols | DCOH, PCBD |
Inheritance | |
OMIM | 126090 |
Chromosome | 10q22.1 |
Panel(s) |
NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |