Congenital disorder of deglycosylation 1
Congenital disorder of deglycosylation 1
Definition
A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
Also known as CDG1V, congenital disorder of deglycosylation 1, congenital disorder of glycosylation type IV, NGLY1 Deficiency, NGLY1-CDDG, NGLY1-deficiency, NGLY1-related congenital disorder of deglycosylation — per MONDO