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

• OMIM:620542

Ontology

Human Disease   ( DOID:0081429 )