Term Name: autosomal recessive distal hereditary motor neuronopathy 9
Synonyms:
Definition: An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12.
Ontology: Human Disease [DOID:0081428]   ( DOID:0081428 )

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