MEDNIK syndrome

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AP1S1 / adaptor related protein complex 1 subunit sigma 1
  7q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adaptor protein complex 1 subunit sigma-1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes