| Metadata | |
|---|---|
| ID | DOID:0051052 |
| Name | congenital disorder of glycosylation type IIy |
| Definition | A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/32395830/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |