autosomal dominant distal hereditary motor neuronopathy 12

Term ID

DOID:0111205

Synonyms

• distal hereditary motor neuronopathy type 5B
• distal HMN VB
• distal spinal muscular atrophy type VB

Definition

An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/22703882

References

• OMIM:614751

Ontology

Human Disease   ( DOID:0111205 )