| Metadata | |
|---|---|
| ID | DOID:0060728 |
| Name | congenital disorder of deglycosylation 1 |
| 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 3p24. https://www.ncbi.nlm.nih.gov/pubmed/24651605, https://www.ncbi.nlm.nih.gov/pubmed/27388694 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation type Iv [EXACT] deficiency of N-glycanase 1 [EXACT] NGLY1-CDDG [EXACT] NGLY1-deficiency [EXACT] |
| Parent Relationships |