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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ii
CDG1I ALG2-CDG
607906
OMIM = Online Medalian Inheritance of Men
79326
9q22.33
very rare (<1:1000000)
autosomal recessive
symptoms
cataract
cleft eyelid (coloboma)
coagulopathy
developmental delay
epilepsy
hepatomegaly (large liver)
hyperreflexia
hypotonia
mental retardation
motor retardation
nystagmus
onset, infancy
seizures
laboratory finding
Coagulopathy/Coagulation factors decreasedplasma
IEF of serum transferrin, type 1 pattern abnormalserum
MRI, brain, abnormalities -
Creatine kinase normal-increasedplasma
Literature
Malheiro AR,da Silva TF, Brites PPlasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjoegren-Larsson syndromeJ Inherit Metab Dis381111-1212015
van den Berg IETBerger RPhosphorylase b kinase deficiency in man: a reviewJ Inherit Metab Dis1304421990