autosomal dominant distal hereditary motor neuronopathy 14 (DOID:0111202)
Alliance: disease page
Synonyms: DHMN7B; distal hereditary motor neuronopathy type 7B; distal hereditary motor neuropathy type VIIB; distal spinal muscular atrophy with vocal cord paralysis type 7B; Harper-Young myopathy; HMN7B; HMN VIIB
Alt IDs: OMIM:607641
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.