| Metadata | |
|---|---|
| ID | DOID:0111674 | 
| Name | intellectual developmental disorder with short stature and behavioral abnormalities | 
| Definition | A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.  https://www.ncbi.nlm.nih.gov/pubmed/31607425  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         IDDSSBA [EXACT]  | 
                        
| Parent Relationships | 
                            
			        
                                 is_a syndrome  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |