autosomal dominant distal hereditary motor neuronopathy 6

Term ID

DOID:0111210

Synonyms

• distal hereditary motor neuronopathy type 2D
• distal hereditary motor neuropathy type IID
• distal spinal muscular atrophy with calf predominance
• HMN IID
• HMN2D

Definition

A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. https://www.ncbi.nlm.nih.gov/pubmed/24207122

References

• MIM:615575

Ontology

Human Disease   ( DOID:0111210 )