Summary Literature (0)

DOID:0060728 - NGLY1-deficiency

Disease Ontology Definition:A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production.

Synonyms: NGLY1-CDDG, congenital disorder of deglycosylation, congenital disorder of glycosylation type Iv, deficiency of N-glycanase 1,

Echinobase Genes : ngly1


OMIM:

MIM:615273 - congenital disorder of deglycosylation; cddg

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee