autosomal recessive distal hereditary motor neuronopathy 3 (DOID:0111211)
Alliance: disease page
Synonyms: autosomal recessive distal spinal muscular atrophy type 3; dHMN3 and dHMN4; distal hereditary motor neuropathy type 3 and type 4; distal spinal muscular atrophy type 3; dSMA3
Alt IDs: OMIM:607088, MESH:C564626, ORDO:139547, UMLS_CUI:C1846823
Definition: An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.