Term Name: | nemaline myopathy 9 |
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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 ) |