Gamma-glutamyl carboxylase deficiency

Synonym(s)
- Combined deficiency of vitamin K-dependent coagulation factors type 1
Type

Disease
External link(s)
- IEMbase
Gene
- GGCX / Gamma-Glutamyl Carboxylase
  2p12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Gamma-glutamyl carboxylase
Disease group(s)
- 21.11 Other disorders of vitamin metabolism
Child entries
- GGCX-associated skin hyperlaxity and clotting factor deficiency
- GGCX-associated skin manifestations with retinitis pigmentosa