Term Name: | autosomal dominant distal hereditary motor neuronopathy 14 |
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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, HMN VIIB, HMN7B |
Definition: | An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. |
Ontology: | Human Disease [DOID:0111202] ( DOID:0111202 ) |