Visit Metagene.de!
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 (<2 SD for age)
nystagmus
onset, infancy
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