| Metadata | |
|---|---|
| ID | DOID:0070376 | 
| Name | developmental and epileptic encephalopathy 31B | 
| Definition | A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.  https://pubmed.ncbi.nlm.nih.gov/34172529/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         DEE31B [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |