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Results 1 - 7 of 7 for Distal hereditary motor neuronopathy
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  1. Distal hereditary motor neuropathy, type V 
    ... a situation known as reduced penetrance. DHMN-V Distal hereditary motor neuronopathy type 5 Distal hereditary motor neuronopathy, type V Distal spinal muscular atrophy, type V ...
    https://medlineplus.gov/...distal-hereditary-motor-neuropathy-type-v - Genetics
  2. Distal hereditary motor neuropathy, type II 
    ... each cell is sufficient to cause the disorder. Distal hereditary motor neuronopathy, type II Genetic Testing Registry: Neuronopathy, distal hereditary ...
    https://medlineplus.gov/...istal-hereditary-motor-neuropathy-type-ii - Genetics
  3. Spinal muscular atrophy with respiratory distress type 1 
    ... muscular atrophy 1 DHMN6 Diaphragmatic spinal muscular atrophy Distal hereditary motor neuronopathy type VI Distal spinal muscular atrophy type 1 ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov NEURONOPATHY, DISTAL ... 1; HMNR1 PubMed Eckart M, Guenther ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  4. DCTN1 gene 
    ... mutation that causes a nervous system disorder called distal hereditary motor neuronopathy type VIIB. Signs and symptoms of this disorder ... G59S). It is unclear how this mutation causes distal hereditary motor neuronopathy type VIIB. The altered protein may result in ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  5. HSPB1 gene 
    ... the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of ...
    https://medlineplus.gov/genetics/gene/hspb1 - Genetics
  6. TRPV4 gene 
    ... TRPV4 PubMed BRACHYOLMIA TYPE 3; BCYM3 PARASTREMMATIC DWARFISM NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  7. Andermann syndrome 
    ... the condition. ACCPN Agenesis of corpus callosum with neuronopathy Agenesis of corpus callosum with peripheral neuropathy Agenesis of corpus callosum with polyneuropathy Charlevoix disease Hereditary motor and sensory neuropathy with agenesis of the corpus ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics