COG1-congenital disorder of glycosylation
COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
MONDO:0002254
syndromic disease
is_a
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017750
defect in conserved oligomeric Golgi complex
is_a
MONDO:0100547
cardiogenetic disease
is_a
CDG 2G
related
CDG syndrome type IIg
exact
CDG-IIg
exact
CDG2G
exact
COG1-CDG
exact
COG1-CDG (CDG-IIg)
related
COG1-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIg
exact
congenital disorder of glycosylation type 2g
exact
congenital disorder of glycosylation type IIg
exact
congenital disorder of glycosylation, type IIg
related
SPAC144.15c