nemaline myopathy 8 (DOID:0110930)
Alliance: disease page
Synonyms: NEM8; nemaline myopathy 8, autosomal recessive
Alt IDs: OMIM:615348
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.