autosomal dominant distal hereditary motor neuronopathy 9

Term ID

DOID:0111212

Synonyms

• DHMN9
• distal hereditary motor neuronopathy type 9
• distal hereditary motor neuropathy type IX
• HMN9

Definition

An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. https://www.ncbi.nlm.nih.gov/pubmed/28369220

References

• OMIM:617721

Ontology

Human Disease   ( DOID:0111212 )