Metadata | |
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ID | DOID:0051042 |
Name | autosomal dominant distal hereditary motor neuronopathy 15 |
Definition | An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/37907725/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |
Subclass Logical Relationships |
existence starts during some Adult onset |