autosomal dominant distal hereditary motor neuronopathy 4

Term ID

DOID:0111209

Synonyms

• DHMN2C
• distal hereditary motor neuronopathy type 2C
• distal hereditary motor neuropathy type IIC
• HMN IIC
• HMN2C

Definition

A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/20142617

References

• OMIM:613376

Ontology

Human Disease   ( DOID:0111209 )