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peripheral motor neuropathy-dysautonomia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009648:  peripheral motor neuropathy-dysautonomia syndrome
MESH:C536988: 
Orphanet:2400: 
UMLS:C1854961: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found