Version: 8.0.0
Date: Tue Jan 28 2025
oculopharyngodistal myopathy 4
DOID:0081300
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

oculopharyngodistal myopathy 4

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.
Synonyms
None
Cross References
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Sources of Associations

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