Term Name: | NGLY1-deficiency |
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Synonyms: | congenital disorder of deglycosylation, congenital disorder of glycosylation type Iv, deficiency of N-glycanase 1, NGLY1-CDDG |
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. |
Ontology: | Human Disease [DOID:0060728] ( DOID:0060728 ) |