RAB3GAP2 deficiency

Synonym(s)
- Warburg micro syndrome type 2,
- Martsolf syndrome type 1
Type

Disease
External link(s)
- IEMbase
Gene
- RAB3GAP2 / RAB3 GTPase Activating Protein Subunit 2
  1q41
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Rab3 GTPase-activating protein non-catalytic subunit
Disease group(s)
- 19.6.4 Other disorders of vesicular trafficking
Child entries
- Autosomal recessive spastic paraplegia type 69