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GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, type 9

Neuronopathy, distal hereditary motor, type 9

Synonyms
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX

Summary

HMND9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by Tsai et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GAMMA-2, HMN9, HMND9, IFI53, IFP53, NEDMSBA, WARS, WARS1
    Summary: tryptophanyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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