Term Name: | oculopharyngodistal myopathy 2 |
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Synonyms: | |
Definition: | An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0081298] ( DOID:0081298 ) |