Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.
Kahook
M Y
MY
Mandava
N
N
Bateman
J B
JB
Thomas
J A
JA
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D005260:Female; D005964:Glucosyltransferases / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011559:Pseudotumor Cerebri / Q000175:diagnosis*; D012162:Retinal Degeneration / Q000175:diagnosis*; D013577:Syndrome
D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases