autosomal dominant distal hereditary motor neuronopathy 14

Term ID

DOID:0111202

Synonyms

• DHMN7B
• distal hereditary motor neuronopathy type 7B
• distal hereditary motor neuropathy type VIIB
• distal spinal muscular atrophy with vocal cord paralysis type 7B
• Harper-Young myopathy
• HMN VIIB
• HMN7B

Definition

An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/12627231

References

• MIM:607641

Ontology

Human Disease   ( DOID:0111202 )