autosomal dominant distal hereditary motor neuronopathy 13

Term ID

DOID:0081401

Synonyms

Definition

An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. https://pubmed.ncbi.nlm.nih.gov/20806400/

References

• OMIM:619112

Ontology

Human Disease   ( DOID:0081401 )