AP4B1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 47
Type

Disease
External link(s)
- IEMbase
Gene
- AP4B1 / Adaptor Related Protein Complex 4 Subunit Beta 1
  1p13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adaptor protein complex AP-4 subunit beta-1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes