Myotubularin-related protein 2 regulatory protein deficiency

Synonym(s)
- Charcot-Marie-Tooth disease type 4B2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SBF2 / SET Binding Factor 2
  11p15.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- SET binding factor 2
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism