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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Is
CDG1S ALG13-CDG
300884
OMIM = Online Medalian Inheritance of Men
324422
Xq23
very rare
x-linked dominant
symptoms
cerebral atrophy
contractures, joints
dysmorphism
encephalopathy
hepatomegaly (large liver)
hydrocephalus
hypotonia
infections (severe or recurrent)
microcephaly
nystagmus
onset, infant
optic atrophy
psychomotor retardation
seizures
laboratory finding
IEF of serum transferrin, type 1 pattern abnormalserum
EEG abnormalities -
Literature
Dohle CIet al.Leukoencephalopathy in adults: Is it adrenoleukodystrophy? A case report and molecular analysisJ Neurol Sci002009