Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
Cormier-Daire
V
V
Amiel
J
J
Vuillaumier-Barrot
S
S
Tan
J
J
Durand
G
G
Munnich
A
A
Le Merrer
M
M
Seta
N
N
D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003967:Diarrhea / Q000209:etiology; D005145:Face / Q000002:abnormalities*; D006023:Glycoproteins / Q000097:blood; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation; D014168:Transferrin / Q000378:metabolism
D006023:Glycoproteins; D014168:Transferrin; D017351:N-Acetylglucosaminyltransferases; C063312:beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase