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 )

Relationships
is a type of: autosomal recessive disease nemaline myopathy