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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iw
CDG1W STT3A-CDG
615596
OMIM = Online Medalian Inheritance of Men
370921
11q24.2
rare
autosomal recessive
symptoms
cerebellar atrophy or hypoplasia
failure to thrive
feeding difficulties, poor feeding
hypotonia
liver involvement or dysfunction
mental retardation
microcephaly (<2 SD for age)
onset, neonatal
optic atrophy
psychomotor retardation
respiratory distress
seizures
laboratory finding
Sialotransferrins (isoelectrofocussing) abnormalserum
Literature