Metadata | |
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ID | DOID:0081429 |
Name | autosomal recessive distal hereditary motor neuronopathy 10 |
Definition | An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/35641352/ |
Xrefs | |
Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |