oculopharyngodistal myopathy 4

Term ID

DOID:0081300

Synonyms

Definition

An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/35148830/

References

• MIM:619790

Ontology

Human Disease   ( DOID:0081300 )