Term Name: | congenital myopathy 21 |
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Synonyms: | |
Definition: | A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. |
Ontology: | Human Disease [DOID:0081353] ( DOID:0081353 ) |