autosomal dominant distal hereditary motor neuronopathy 8 (DOID:0111215)
Alliance: disease page
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
Alt IDs: OMIM:600175
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 serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.