oculopharyngodistal myopathy 3

Term ID

DOID:0081299

Synonyms

Definition

An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/33693509/

References

• OMIM:619473

Ontology

Human Disease   ( DOID:0081299 )