Human genes for NGLY1-deficiency
NGLY1-deficiency [DOID:0060728]
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.
Synonyms: NGLY1-deficiency, DOID:0060728, NGLY1deficiency, congenital disorder of deglycosylation, congenital disorder of glycosylation type Iv ...