has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of NGLY1 peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity protein deglycosylation syndromic intellectual disability inborn carbohydrate metabolic disorder congenital disorder of deglycosylation glycoprotein metabolism disease congenital disorder of deglycosylation 1 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4864 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/8571 https://www.malacards.org/card/congenital_disorder_of_deglycosylation_1 OMIM:615273 Orphanet:404454 congenital disorder of glycosylation type IV SCTID:768846004 congenital disorder of deglycosylation NGLY1 Deficiency congenital disorder of deglycosylation;CDDG NGLY1-deficiency A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. NCIT:C126746 NGLY1-CDDG DOID:0060728 CDDG NORD:1919 MONDO:0800044 congenital disorder of glycosylation, type IV CDG1V congenital disorder of deglycosylation 1 NGLY1 deficiency GARD:0012315 NGLY1-related congenital disorder of deglycosylation