Term Name: | nemaline myopathy 8 |
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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 ) |