autosomal recessive distal hereditary motor neuronopathy 9

Term ID

DOID:0081428

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. https://pubmed.ncbi.nlm.nih.gov/36454683/

References

• MIM:620402

Ontology

Human Disease   ( DOID:0081428 )