Term Name: nemaline myopathy 9
Synonyms: NEM9
Definition: A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.
Ontology: Human Disease [DOID:0110929]   ( DOID:0110929 )

Relationships
is a type of: autosomal recessive disease nemaline myopathy