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Metadata
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

MIM:620402

Parent Relationships

is_a autosomal recessive distal hereditary motor neuronopathy

Subclass Logical Relationships

existence starts during some Juvenile onset

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