Term Name:	oculopharyngodistal myopathy 4
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.
Ontology:	Human Disease [DOID:0081300]   ( DOID:0081300 )