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Human Disease

autosomal recessive distal hereditary motor neuronopathy 7

Term ID
DOID:0081426
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. (2)
References
Ontology
Human Disease   ( DOID:0081426 )
Relationships
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Zebrafish Models