Approved symbol | PDHA1 |
---|---|
Approved name | pyruvate dehydrogenase E1 subunit alpha 1 |
HGCN ID | HGNC:8806 |
Previous symbols | PDHA |
Inheritance | |
OMIM | 300502 |
Chromosome | Xp22.12 |
Panel(s) |
NGS Bewegingsstoornissen NGS Epilepsie NGS Foetale akinesie-deformatiesequentie FADS NGS Intellectual disability NGS Mendelioom NGS Microcefalie |