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Autosomal Recessive Distal Hereditary Motor Neuronopathy 10

Disease ID: disease_node_18017

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DbxrefMIM:620542
SubclassofDOID_0111197
Data SourceDOID
Doid Labelautosomal recessive distal hereditary motor neuronopathy 10
Doid DescriptionAn autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predomitly 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.
Disease Node Iddisease_node_18017
Doid IdDOID_0081429
LabelAutosomal Recessive Distal Hereditary Motor Neuronopathy 10