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"Neuronopathy," distal hereditary "motor," autosomal recessive 10
- ... National Organization for Rare Disorders (NORD) ... with respiratory distress type 1 (SMARD1). Pediatrics. 2012 Jan;129(1):e148-56. doi: 10.1542/peds.2011-0544. Epub 2011 Dec 12. ...
- ... variants. The parents of an individual with an autosomal recessive condition each carry ... Charlevoix disease Hereditary motor and sensory neuropathy with agenesis of the corpus ...