VPS13D deficiency

Synonym(s)
- Autosomal recessive spinocerebellar ataxia type 4
Type

Disease
External link(s)
- IEMbase
Gene
- VPS13D / VPS13D
  1p36.22-p36.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Vacuolar protein sorting 13 homolog D
Disease group(s)
- 19.5 Disorders of organelle interplay