NGLY1-deficiency

Term ID

DOID:0060728

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. (2)

References

• ICD10CM:E77.8
• MESH:C000626124
• OMIM:615273
• ORDO:404454

Ontology

Human Disease   ( DOID:0060728 )