Approved symbol | MBTPS2 |
---|---|
Approved name | membrane bound transcription factor peptidase, site 2 |
HGCN ID | HGNC:15455 |
Previous symbols | KFSD |
Inheritance | |
OMIM | 300294 |
Chromosome | Xp22.12 |
Panel(s) |
NGS Intellectual disability NGS Mendelioom NGS Osteogenesis imperfecta en gerelateerde aandoeningen NGS Skeletdysplasie |