Approved symbol | PAH |
---|---|
Approved name | phenylalanine hydroxylase |
HGCN ID | HGNC:8582 |
Previous symbols | |
Inheritance | |
OMIM | 612349 |
Chromosome | 12q23.2 |
Panel(s) |
NGS Intellectual disability NGS Mendeliome NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |