essential tremor 6

Term ID

DOID:0081295

Synonyms

Definition

An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/31819945/

References

• OMIM:618866

Ontology

Human Disease   ( DOID:0081295 )