Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups
Khemika K. Sudnawa,
Sean Calamia,
Alexa Geltzeiler
et al.
Abstract:Pathogenic variants in pleckstrin homology domain interacting protein (PHIP) are associated with Chung–Jansen syndrome characterized by developmental delay, intellectual disability, behavioral challenges, hypotonia, obesity, and dysmorphic features. We report phenotypes and genotypes of 47 individuals with likely pathogenic/pathogenic PHIP variants. Variants were de novo in 61.7%, unknown inheritance in 29.8%, and inherited in 8.5%. The median age of the individuals was 10.9 years, approximately equally divide… Show more
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