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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
mutation in the STT3A gene
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