has material basis in germline mutation in DPAGT1 congenital disorder of glycosylation type I DPAGT1-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ij dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency SCTID:725079003 congenital disorder of glycosylation, type Ij DPAGT1-CDG (CDG-Ij) Orphanet:86309 CDG 1J CDG syndrome type Ij MONDO:0011964 GARD:0009837 DPAGT1-CDG DOID:0080562 CDGIj NCIT:C126874 CDG-Ij DPAGT1-congenital disorder of glycosylation CDG1J congenital disorder of glycosylation type Ij DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). UMLS:C2931004 MESH:C535748 congenital disorder of glycosylation type 1j carbohydrate deficient glycoprotein syndrome type Ij OMIM:608093 MEDGEN:419694 disorder of protein N-glycosylation