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GENATLAS PHENOTYPE

last update : 21/08/07

Symbol	DSS1
Location	17p11.2
Name	Dejerine-Sottas syndrome 1
Corresponding gene	PMP22
Main clinical features	severe form of hypertrophic axonal and demyelinating neuropathy hypertrophic neuropathy with nystagmus, distal muscular weakness, distal sensory change, pes cavus and exacerbations and remissions spinal nerve root enlargement was demonstrable by myelography; elevated spinal fluid protein is often found; 'Onion bulb' formation makes the histologic diagnosis
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

Genotype/Phenotype correlations

compound heterozygous deletions of PMP22 causing severe phenotype