<unk>  or<unk> -CDG is a very rare genetic disorder caused by mutations in<unk> . It is an autosomal recessive disorder. A defective copy of the<unk>  gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”.<unk> -CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide.
PMM2 deficiency
DOCK8 deficiency
ZAP70 deficiency
NGLY1 deficiency
WNT4 deficiency
PGM3 deficiency
ZC4H2 deficiency
LRBA deficiency