OBO ID: DOID:0070253
Term Name: congenital disorder of glycosylation type IIa Search Ontology:
Synonyms:
  • Alkuraya syndrome
  • carbohydrate-deficient glycoprotein syndrome, type II
  • CDG IIa
  • CDG2A
  • CDGIIa
  • CDGS2
  • congenital disorder of glycosylation, type IIa
  • mental retardation, growth retardation, prominent columella, and open mouth
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3. https://www.ncbi.nlm.nih.gov/pubmed/8127054
References:
Ontology: Human Disease   (DOID:0070253)
OTHER congenital disorder of glycosylation type IIa PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MGAT2 Congenital disorder of glycosylation, type IIa 212066
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None