| Metadata | |
|---|---|
| ID | DOID:0110929 |
| Name | nemaline myopathy 9 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/24268659 |
| Xrefs | |
| Synonyms |
NEM9 [EXACT] |
| Parent Relationships |
is_a nemaline myopathy |