autosomal dominant distal hereditary motor neuronopathy 3 (DOID:0111207)
Alliance: disease page
Synonyms: distal hereditary motor neuronopathy type 2B; distal hereditary motor neuropathy type IIB; HMN2B; HMN IIB
Alt IDs: OMIM:608634
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.