has material basis in germline mutation in PGM1 congenital disorder of glycosylation type I PGM1-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_it NANDO:1200836 congenital disorder of glycosylation, type It GSD 14 Pgm1 deficiency CDG it DOID:0080570 MONDO:0013968 glycogen storage disease due to phosphoglucomutase deficiency Orphanet:319646 GSD type 14 OMIM:614921 glycogen storage disease 14 phosphoglucomutase deficiency type 1 MEDGEN:414536 CDG-It GSDXIV congenital disorder of glycosylation type It phosphoglucomutase-1 deficiency congenital disorder of glycosylation type 1t PGM1-congenital disorder of glycosylation icd11.foundation:1592319293 phosphoglucomutase 1 deficiency type 14 glycogenosis UMLS:C2752015 CDG1T CDG syndrome type It PGM1-CDG GARD:0004329 MESH:C567859 familial dilated cardiomyopathy disorder of protein N-glycosylation