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Human Disease

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
Ontology
Human Disease   ( DOID:0081300 )
Relationships
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Genes Involved
Zebrafish Models