Term Name: | autosomal dominant distal hereditary motor neuronopathy 2 |
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Synonyms: | distal hereditary motor neuronopathy type 2, distal hereditary motor neuronopathy type 2A, distal hereditary motor neuropathy type II, HMN II, HMN2 |
Definition: | An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. |
Ontology: | Human Disease [DOID:0111206] ( DOID:0111206 ) |