| X-gebonden hereditaire sensorische en autonome neuropathie met doofheid (aandoening) |
| X-gebonden hereditaire sensorische en autonome neuropathie met doofheid |
| X-gebonden auditieve neuropathie met perifere sensorische neuropathie type 1
X-gebonden HSAN met doofheid
X-gebonden congenitaal pijnongevoeligheidssyndroom met doofheid
X-gebonden erfelijke sensibel-autonome neuropathie met doofheid
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| X-linked hereditary sensory and autonomic neuropathy with deafness |
| X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness
X-linked auditory neuropathy with peripheral sensory neuropathy type 1
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| This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive. |
