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autosomal dominant distal hereditary motor neuronopathy 8 (DOID:0111215)
Alliance: disease page
Synonyms: autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; DHMN8; distal hereditary motor neuronopathy type 8; distal hereditary motor neuropathy type VIII; HMN8
Alt IDs: OMIM:600175
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory