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Up to: Inborn carbohydrate metabolic disorder · Glycoprotein metabolism disease · Congenital disorder of deglycosylation
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.
This condition has no sub-types.