/DPAGT1-congenital disorder of glycosylation

DPAGT1-congenital disorder of glycosylation

Rare Disease

MONDO:0011964

Also Known As

CDG syndrome type IjCDG-IjCDG1JCDGIjDPAGT1-CDGDPAGT1-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type Ijcongenital disorder of glycosylation type 1jcongenital disorder of glycosylation type Ijdolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiencyCDG 1JCDG IjDPAGT1-CDG (CDG-Ij)congenital disorder of glycosylation, type Ij

Definition

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).