Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 (HMND13)

Alias:

Neuronopathy, Distal Hereditary Motor, Type 5c

Dhmn5c

Dsmavc

Hmn5c

Neuronopathy, Distal Hereditary Motor, Harding Type Vc

Neuropathy, Distal Hereditary Motor, Harding Type Vc

Spinal Muscular Atrophy, Distal, Harding Type Vc

Neuronopathy, Distal Hereditary Motor, Type Vc

Distal Hereditary Motor Neuronopathy Type Vc

Neuronopathy, Distal Hereditary Motor, 5c

Spinal Muscular Atrophy, Distal, Type 5c

Spinal Muscular Atrophy, Distal, Type Vc

Distal Spinal Muscular Atrophy Type 5c

Dhmn Vc

Hmnd13

Dsma5c

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13, also known as neuronopathy, distal hereditary motor, type 5c, is related to distal hereditary motor neuronopathy type 5 and distal hereditary motor neuronopathy type 5a. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include spinal cord.

Related ID：

MALACARDS：NRN073

OMIM：619112

MESH：D009134