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autosomal dominant distal hereditary motor neuronopathy 6
Summary
- Synonym
-
- HMN IID
- HMN2D
- distal hereditary motor neuronopathy type 2D
- distal hereditary motor neuropathy type IID
- distal spinal muscular atrophy with calf predominance
- Definition
- A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111210
- Mondo Disease Ontology
- OMIM
