Jordan's syndrome, abbreviated JS and also called PPP2R5D-related intellectual disability, is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. Children with the syndrome may also have epilepsy or meet the criteria for a diagnosis of autism spectrum disorder. The source lead points readers to Houge-Janssens syndrome as a related entry, because the gene product 2R5D is a subunit of protein phosphatase type 2A (PP2A). This entry records how the condition is classified and described, and is not medical advice.
Facts
Classification
Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Jordan's syndrome (Wikipedia)
Lead paragraph
caused by de novo mutations in the PPP2R5D gene
Lead paragraph [body-system]
a rare autosomal dominant neurodevelopmental disorder
Lead: disease category
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.
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