Renpenning Syndrome

About the Disease
Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 2b1 and x-linked intellectual disability, golabi-ito-hall type, and has symptoms including muscle spasticity An important gene associated with Renpenning Syndrome 1 is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways/superpathways is Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include testes, heart and eye, and related phenotypes are intellectual disability and global developmental delay

Common Targets
PQBP1

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