Term Name: | autosomal dominant distal hereditary motor neuronopathy 8 |
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Synonyms: | autosomal dominant benign distal spinal muscular atrophy, autosomal dominant congenital benign spinal muscular atrophy, congenital benign spinal muscular atrophy with contractures, congenital nonprogressive spinal muscular atrophy, DHMN8, distal hereditary motor neuronopathy type 8, distal hereditary motor neuropathy type VIII, HMN8 |
Definition: | An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. |
Ontology: | Human Disease [DOID:0111215] ( DOID:0111215 ) |