Term Name: | nemaline myopathy 7 |
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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 ) |