Desbuquois dysplasia type 1

Synonym(s)
- CANT1-CDG
Type

Disease
External link(s)
- IEMbase
Gene
- CANT1 / calcium activated nucleotidase 1
  17q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Calcium-activated nucleotidase 1
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation
Child entries
- Multiple epiphyseal dysplasia type 7