Congenital disorder of deglycosylation 1

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: CDDG, congenital disorder of deglycosylation, congenital disorder of deglycosylation;CDDG, CDG1V, NGLY1 Deficiency, NGLY1 deficiency, NGLY1-CDDG, NGLY1-deficiency

2 clinical trials for this condition and its sub-types, 2 tagged with Congenital disorder of deglycosylation 1 itself.