DO_rare_slim NCIthesaurus has symptom disease has location autosomal dominant distal hereditary motor neuronopathy autosomal dominant distal hereditary motor neuronopathy 1 UMLS_CUI:C1866784 MESH:C566675 SNOMEDCT_US_2025_09_01:770630005 NCI:C132826 MIM:182960 DOID:0111200 ORDO:139518 An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. HMN I autosomal dominant distal juvenile spinal muscular atrophy type 1 dHMN1 disease_ontology distal hereditary motor neuronopathy type 1 distal hereditary motor neuropathy type I spinal Charcot-Marie-Tooth disease 1 muscle weakness ventral horn of spinal cord