AP4S1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 52
Type

Disease
External link(s)
- IEMbase
Gene
- AP4S1 / adaptor related protein complex 4 subunit sigma 1
  14q12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- adaptor protein complex 4 subunit sigma 1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes