Metadata | |
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ID | DOID:0081428 |
Name | autosomal recessive distal hereditary motor neuronopathy 9 |
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/ |
Xrefs | |
Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |
Subclass Logical Relationships |
existence starts during some Juvenile onset |