| Term Name: | nemaline myopathy 9 |
|---|---|
| Synonyms: | NEM9 |
| Definition: | A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. |
| Ontology: | Human Disease [DOID:0110929] ( DOID:0110929 ) |