| Metadata | |
|---|---|
| ID | DOID:0080587 | 
| Name | congenital myasthenic syndrome 22 | 
| Definition | A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.  https://www.ncbi.nlm.nih.gov/pubmed/28726805  | 
			    
                        
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth  |