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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, type 2C

Neuronopathy, distal hereditary motor, type 2C

Synonyms
Distal Hereditary Motor Neuronopathy, Type IIC; HMN IIC; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIC; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIC

Summary

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. [from MONDO]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DHMN2C, HMN2C, HMND4, HSPL27, HSPB3
    Summary: heat shock protein family B (small) member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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