Myotubularin-related protein 2 activator deficiency

Synonym(s)
- Charcot-Marie-Tooth disease type 4B3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SBF1 / SBF1
  22q13.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- SET Binding Factor 1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism