congenital disorder of glycosylation type IIa

Term ID

DOID:0070253

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 the MGAT2 gene on chromosome 14q21.3. https://www.ncbi.nlm.nih.gov/pubmed/8127054

References

• GARD:9828
• MESH:C535752
• OMIM:212066
• ORDO:79329
• SNOMEDCT_US_2023_03_01:724142005
• UMLS_CUI:C2931008

Ontology

Human Disease   ( DOID:0070253 )