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PMM2-congenital disorder of glycosylation
MONDO:0008907
autosomal recessive limb-girdle muscular dystrophy type 2C
MONDO:0009677
developmental and epileptic encephalopathy, 36
MONDO:0010472
SSR4-congenital disorder of glycosylation
MONDO:0010490
Barth syndrome
MONDO:0010543
histiocytoid cardiomyopathy
MONDO:0010771