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neuronopathy, distal hereditary motor, type 2D | RareConnect | RareConnect.io

/distal hereditary motor neuropathy type 2

/neuronopathy, distal hereditary motor, type 2D

neuronopathy, distal hereditary motor, type 2D

Rare Disease

MONDO:0014259

Also Known As

FBXO38 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in FBXO38HMN 2DHMN2Dneuronopathy, distal hereditary motor, type IIDneuropathy, distal hereditary motor, type 2Dspinal muscular atrophy, distal, autosomal dominant, calf-predominant

Definition

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615575 ↗

GARD

Related Diseases

neuronopathy, distal hereditary motor, type 2A

MONDO:0008025

neuronopathy, distal hereditary motor, type 2B

MONDO:0012080

neuronopathy, distal hereditary motor, type 2C

MONDO:0013243

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