nemaline myopathy 8
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
nemaline myopathy 8
- NEM8
- nemaline myopathy 8, autosomal recessive
disease_ontology
DOID:0110930