Term Name: autosomal dominant distal hereditary motor neuronopathy 12
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.
Ontology: Human Disease [DOID:0111205]   ( DOID:0111205 )

Relationships
is a type of: autosomal dominant distal hereditary motor neuronopathy