Term Name: | autosomal recessive distal hereditary motor neuronopathy 9 |
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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 ) |