| Metadata | |
|---|---|
| ID | DOID:0112153 | 
| Name | hypomyelinating leukodystrophy 20 | 
| Definition | A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.  https://pubmed.ncbi.nlm.nih.gov/32128616/  | 
			    
                        
| Xrefs | |
| Synonyms | 
                                
                                    
                                         HLD20 [EXACT]  | 
                        
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |