/congenital disorder of deglycosylation 1

congenital disorder of deglycosylation 1

Rare Disease

MONDO:0800044

Also Known As

CDDGcongenital disorder of deglycosylationcongenital disorder of deglycosylation;CDDGCDG1VNGLY1 DeficiencyNGLY1 deficiencyNGLY1-CDDGNGLY1-deficiencyNGLY1-related congenital disorder of deglycosylationcongenital disorder of deglycosylation 1congenital disorder of glycosylation type IVdeficiency of N-glycanase 1CDG IVCDG IV, formerlyalacrimia - choreoathetosis - liver dysfunction syndromecongenital disorder of glycosylation, type IVcongenital disorder of glycosylation, type IV, formerly

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.