| 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  |