| Metadata | |
|---|---|
| ID | DOID:0051049 |
| Name | congenital disorder of glycosylation type IIt |
| Definition | A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. https://pubmed.ncbi.nlm.nih.gov/32293671/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |