AP4M1 deficiency

Synonym(s)
- Autosomal recessive spastic paraplegia type 50
Type

Disease
External link(s)
- IEMbase
Gene
- AP4M1 / AP-4 complex subunit mu 1
  7q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adaptor protein complex 4 subunit mu 1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes