Human genes for distal hereditary motor neuronopathy type 8
Distal hereditary motor neuronopathy type 8 [DOID:0111215]
A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11.
Synonyms: distal hereditary motor neuronopathy type 8, distal familial motor neuronopathy type 8, DOID:0111215, autosomal dominant benign distal spinal muscular atrophy, autosomal dominant congenital benign spinal muscular atrophy ...