Term Name:	congenital disorder of deglycosylation 1
Synonyms:	congenital disorder of glycosylation type Iv, deficiency of N-glycanase 1, NGLY1-CDDG, NGLY1-deficiency
Definition:	A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24.
Ontology:	Human Disease [DOID:0060728]   ( DOID:0060728 )