autosomal dominant distal hereditary motor neuronopathy 15

Term ID

DOID:0051042

Synonyms

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/

References

• MIM:621094

Ontology

Human Disease   ( DOID:0051042 )