Term Name: nemaline myopathy 7
Synonyms: NEM7, nemaline myopathy 7, autosomal recessive
Definition: A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
Ontology: Human Disease [DOID:0110934]   ( DOID:0110934 )

Relationships
is a type of: autosomal recessive disease nemaline myopathy