Term Name: | autosomal dominant distal hereditary motor neuronopathy 12 |
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Synonyms: | distal hereditary motor neuronopathy type 5B, distal HMN VB, distal spinal muscular atrophy type VB |
Definition: | An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. |
Ontology: | Human Disease [DOID:0111205] ( DOID:0111205 ) |