Distal Hereditary Motor Neuronopathy Type 7a

Alias:
Neuronopathy, Distal Hereditary Motor, Type 7a
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis Type 7a
Neuropathy, Distal Hereditary Motor, Type Viia
Distal Hereditary Motor Neuropathy Type Viia
Harper-Young Myopath
Hmn Viia
Dhmn7a
Hmn7a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Hereditary Motor Neuronopathy Type 7a, also known as neuronopathy, distal hereditary motor, type 7a, is related to neuronopathy, distal hereditary motor, autosomal dominant 7 and myasthenic syndrome, congenital, 20, presynaptic. An important gene associated with Distal Hereditary Motor Neuronopathy Type 7a is SLC5A7 (Solute Carrier Family 5 Member 7), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Related phenotypes are tremor and vocal cord paralysis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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6
23
3

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
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References Literature

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