| umls-concept:C0752282 | skos:definition | MSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.,NCI: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. | lld:umls |
