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Human Disease

autosomal recessive distal hereditary motor neuronopathy 10

Term ID
DOID:0081429
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0081429 )
Relationships
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Genes Involved
Zebrafish Models