| Term Name: | nemaline myopathy 8 |
|---|---|
| Synonyms: | NEM8, nemaline myopathy 8, autosomal recessive |
| Definition: | A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. |
| Ontology: | Human Disease [DOID:0110930] ( DOID:0110930 ) |