Distal Hereditary Motor Neuronopathy Type 2d

Alias:

Neuronopathy, Distal Hereditary Motor, Type 2d

Distal Spinal Muscular Atrophy with Calf Predominance

Neuronopathy, Distal Hereditary Motor, Type Iid

Distal Hereditary Motor Neuropathy Type Iid

Hmn Iid

Hmn2d

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Distal Hereditary Motor Neuronopathy Type 2d, also known as neuronopathy, distal hereditary motor, type 2d, is related to distal hereditary motor neuronopathy type 2 and neuronopathy, distal hereditary motor, autosomal dominant 6, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Distal Hereditary Motor Neuronopathy Type 2d is FBXO38 (F-Box Protein 38), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Related phenotypes are pes cavus and decreased motor nerve conduction velocity

Related ID：

MALACARDS：DST150