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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq CDG2Q
CDG IIq COG2-CDG
617395
OMIM = Online Medalian Inheritance of Men
435934
1q42.2
very rare
autosomal recessve
mutation in the COG2 gene
symptoms
cerebral atrophy
Coagulopathy/Coagulation factors
dysmorphism
intellectual disability/intellectual developmental disorder (ID/ IDD)
liver involvement or dysfunction
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
Copper -Ág/dlserum
Ceruloplasmin mg/dlserum
Asialotransferrin serum
Disialotransferrin serum
Tetrasialotransferrin serum
Literature
Cubero A,et al.Severe Arterial TortuosityWorld J Pediatr Congenit Heart Surg82231-2342017