Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuronopathy(来自ICD-11)
别称:
Autosomal Dominant Distal Hereditary Motor Neuropathy
Autosomal Dominant Distal Spinal Muscular Atrophy
Autosomal Dominant Dhmn
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Autosomal Dominant Distal Hereditary Motor Neuronopathy, also known as autosomal dominant distal hereditary motor neuropathy, is related to neuronopathy, distal hereditary motor, autosomal dominant 5 and distal hereditary motor neuronopathy type 1. An important gene associated with Autosomal Dominant Distal Hereditary Motor Neuronopathy is BICD2 (BICD Cargo Adaptor 2), and among its related pathways/superpathways are tRNA Aminoacylation and Intracellular trafficking proteins involved in CMT neuropathy. Related phenotypes are Reduced mammosphere formation and muscle
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MALACARDS
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Unknown
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23
133
3

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