GMPPA-CDG

Synonym(s)
- Alacrima, achalasia, and intellectual disability syndrome
Type

Disease
External link(s)
- IEMbase
Gene
- GMPPA / GDP-mannose pyrophosphorylase A
  2q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- GDP-mannose pyrophosphorylase A
Disease group(s)
- 18.4.5 Other disorders of multiple glycosylation pathways