POMK-CDG

Synonym(s)
- MDDG-12 (type A)
Type

Disease
External link(s)
- IEMbase
Gene
- POMK / Protein O-Mannose Kinase
  8p11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Protein O-mannose kinase
Disease group(s)
- 18.2.1 Disorders of O-mannosylation