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autosomal dominant distal hereditary motor neuronopathy 8
Summary
- Synonym
-
- DHMN8
- HMN8
- 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
- distal hereditary motor neuronopathy type 8
- distal hereditary motor neuropathy type VIII
- 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 serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111215
- Mondo Disease Ontology
- OMIM
