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Jordan's syndrome

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Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. Also see Houge-Janssens Syndrome as 2R5D is a subunit of protein phosphatase type 2A (PP2A).

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