NGLY1-deficiency (DOID:0060728)
Alliance: disease page
Synonyms: congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; deficiency of N-glycanase 1; NGLY1-CDDG
Alt IDs: OMIM:615273, ICD10CM:E77.8, MESH:C000626124, ORDO:404454
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 1p24.