Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

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Synonyms: Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare syndromic genetic deafness characterized by a combination of muscle weakness chronic neuropathic and myopathic features hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome?

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