autosomal dominant distal hereditary motor neuronopathy 10

Term ID

DOID:0081399

Synonyms

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/31978608/

References

• OMIM:620080

Ontology

Human Disease   ( DOID:0081399 )