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: |
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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 |