Term Name: autosomal dominant distal hereditary motor neuronopathy 3
Synonyms: distal hereditary motor neuronopathy type 2B, distal hereditary motor neuropathy type IIB, HMN IIB, HMN2B
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.
Ontology: Human Disease [DOID:0111207]   ( DOID:0111207 )

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