Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
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Sign InDescription
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.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
31