| congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 5 (aandoening) |
| congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 5 |
| congenitaal defect in glycosylering gerelateerd aan COG5
COG5-CDG
congenitaal defect in glycosylering type 2i
|
| COG5 congenital disorder of glycosylation |
| CDG2I - carbohydrate deficient glycoprotein syndrome type IIi
COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation
Component of oligomeric golgi complex 5 congenital disorder of glycosylation
Congenital disorder of glycosylation type IIi
Carbohydrate deficient glycoprotein syndrome type IIi
|
| An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate intellectual disability with slow and inarticulate speech, truncal ataxia and mild hypotonia. |
