autosomal dominant distal hereditary motor neuronopathy 12 (DOID:0111205)
Alliance: disease page
Synonyms: distal hereditary motor neuronopathy type 5B; distal HMN VB; distal spinal muscular atrophy type VB
Alt IDs: OMIM:614751
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.