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autosomal dominant distal hereditary motor neuronopathy 14
Summary
- Synonym
-
- DHMN7B
- HMN VIIB
- HMN7B
- Harper-Young myopathy
- distal hereditary motor neuronopathy type 7B
- distal hereditary motor neuropathy type VIIB
- distal spinal muscular atrophy with vocal cord paralysis type 7B
- Definition
- An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111202
- Mondo Disease Ontology
- OMIM
