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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease jervell and lange-nielsen syndrome
Comorbidity C0155550|neural deafness
Sentences 2
PubMedID- 20809527 Two phenotypic variants have been described: i) the more common autosomal dominant romano-ward syndrome (romano, et al., 1963; ward, 1964), and ii) the less common autosomal recessive jervell and lange-nielsen syndrome, which is associated with sensorineural deafness (jervell and lange-nielsen, 1957).
PubMedID- 23392653 Surprisingly, 11 of these patients (73%) presented without the sensorineural deafness associated with jervell and lange-nielsen syndrome.

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