| Metadata | |
|---|---|
| ID | DOID:0080552 |
| Name | congenital disorder of glycosylation Ia |
| Definition | A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1a [EXACT] PMM2-congenital disorder of glycosylation [EXACT] |
| Parent Relationships |