Term Name: | autosomal recessive distal hereditary motor neuronopathy 7 |
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Synonyms: | |
Definition: | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0081426] ( DOID:0081426 ) |