Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care
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PPP2 syndrome type R5D, or Jordan's syndrome, is a neurodevelopmental disorder caused by pathogenic missense variants in PPP2R5D, a β-subunit of the Protein Phosphatase 2A (PP2A). The condition is characterized by global developmental delays, seizures, macroc... ...
