AP4E1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 51
Type

Disease
External link(s)
- IEMbase
Gene
- AP4E1 / adaptor related protein complex 4 epsilon 1 subunit
  15q21.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adaptor-related protein complex 4, epsilon 1 subunit
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes