COG5-congenital disorder of glycosylation
COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
MONDO:0002254
syndromic disease
is_a
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0017750
defect in conserved oligomeric Golgi complex
is_a
CDG syndrome type 3
related
CDG syndrome type III
exact
CDG-III
exact
CDG2I
exact
COG5-CDG
exact
COG5-CDG (CDG-III)
related
COG5-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type III
exact
congenital disorder of glycosylation type 2i
exact
congenital disorder of glycosylation type III
exact
congenital disorder of glycosylation, type III
related
SPBC19G7.14c