AP5Z1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 48
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AP5Z1 / AP-5 Subunit Z1
  7p22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adaptor protein complex 5 subunit zeta 1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes