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congenital US English

(Especially of a disease or physical abnormality) present from birth

congenital US Thesaurus

congenital defects

congenital paramyotonia in paramyotonia US English

Atypical myotonia; specifically (more fully congenital paramyotonia, paramyotonia congenita) a familial (autosomal dominant) disorder characterized by attacks of myotonia typically triggered by exposure to cold, with intermittent flaccid muscle weakness, caused by mutations of the skeletal muscle sodium channel.