autosomal dominant distal hereditary motor neuronopathy 11

Term ID

DOID:0081400

Synonyms

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/33206935/

References

• OMIM:620528

Ontology

Human Disease   ( DOID:0081400 )