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autosomal dominant distal hereditary motor neuronopathy 3
Summary
- Synonym
-
- HMN IIB
- HMN2B
- distal hereditary motor neuronopathy type 2B
- distal hereditary motor neuropathy type IIB
- Definition
- An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111207
- Mondo Disease Ontology
- OMIM
