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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG-ICC

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG-ICC
CDG1cc
301031
OMIM = Online Mendelian Inheritance of Men
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Xp21.1
very rare
X-linked recessive
mutation in the MAGT1 gene
Laboratory findings    no specific laboratory findings (P, S, U ,CSF) ()
Symptoms    behavior, abnormal or bizarre, confusion
    developmental delay
    dysmorphism
    hepatomegaly (large liver)
    intellectual disability/intellectual developmental disorder
    onset, childhood