| Metadata | |
|---|---|
| ID | DOID:0081346 |
| Name | congenital myopathy 14 |
| Definition | A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. https://pubmed.ncbi.nlm.nih.gov/30215711/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal recessive disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |