AP2S1 deficiency

Synonym(s)
- Hypocalciuric hypercalcemia type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AP2S1 / AP-2 complex subunit sigma 1
  19q13.32
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- AP-2 complex subunit sigma 1
Disease group(s)
- 19.6.3 Disorders of the adaptor protein complexes