Nonlysosomal glucosylceramidase deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 46
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GBA2 / Glucosylceramidase Beta 2
  9p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glucosylceramidase beta 2
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling
Child entries
- Autosomal recessive cerebellar ataxia with late-onset spasticity