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autosomal recessive distal hereditary motor neuronopathy 7
Summary
- 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.
- Super Class
- autosomal recessive distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0081426
- Mondo Disease Ontology
- OMIM
Related Genes
