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CONGENITAL DISORDER OF GLYCOSYLATION (TSTA3)

CONGENITAL DISORDER OF GLYCOSYLATION (TSTA3)
TSTA3-CDG
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OMIM = Online Mendelian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
new glycosylation disorder and treatable with
L-fucose [Huelle A 2020]
Laboratory findings
Symptoms    dysmorphism
    failure to thrive
    feeding difficulties, poor feeding
    hypotonia
    onset, infancy
    onset, neonatal