Term Name: | autosomal recessive distal hereditary motor neuronopathy 3 |
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Synonyms: | autosomal recessive distal spinal muscular atrophy type 3, dHMN3, dHMN3 and dHMN4, dHMN4, distal hereditary motor neuropathy type 3, distal hereditary motor neuropathy type 3 and type 4, distal hereditary motor neuropathy type 4, distal spinal muscular atrophy type 3, dSMA3 |
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. |
Ontology: | Human Disease [DOID:0111211] ( DOID:0111211 ) |