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

• OMIM:619216

Ontology

Human Disease   ( DOID:0081426 )