Term Name: autosomal dominant distal hereditary motor neuronopathy 11
Synonyms:
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0081400]   ( DOID:0081400 )

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