oculopharyngodistal myopathy 4 (DOID:0081300)
Alliance: disease page
Alt IDs: OMIM:619790
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.