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- Be81e3d7f7c7557fe008daabb7d575ceb hasDbXref "Orphanet:2400" @default.
- Be81e3d7f7c7557fe008daabb7d575ceb type Axiom @default.
- Be81e3d7f7c7557fe008daabb7d575ceb annotatedProperty IAO_0000115 @default.
- Be81e3d7f7c7557fe008daabb7d575ceb annotatedSource MONDO_0009648 @default.
- Be81e3d7f7c7557fe008daabb7d575ceb annotatedTarget "Peripheral motor neuropathy-dysautonomia syndrome is characterized 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." @default.