DPAGT1-congenital disorder of glycosylation
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).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG 1J
related
CDG syndrome type Ij
exact
CDG-Ij
exact
CDG1J
exact
CDGIj
exact
DPAGT1-CDG
exact
DPAGT1-CDG (CDG-Ij)
related
DPAGT1-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type Ij
exact
congenital disorder of glycosylation type 1j
exact
congenital disorder of glycosylation type Ij
exact
congenital disorder of glycosylation, type Ij
related
dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
exact
SPBC15D4.04