Jordan's Syndrome

http://dbpedia.org/resource/Jordan's_Syndrome an entity of type: Thing

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. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. rdf:langString
rdf:langString Jordan's Syndrome
rdf:langString Jordan's syndrome
xsd:integer 68790236
xsd:integer 1093643224
rdf:langString Molecular genetic testing
rdf:langString Mild to severe global developmental delay, seizure, macrocephaly, hypotonia, autism, dysmorphic facial features
rdf:langString Heterozygous PPP2R5D mutation
rdf:langString Lifelong
xsd:integer 23
rdf:langString PPP2R5D-related intellectual disability, mental retardation, autosomal dominant 35
rdf:langString 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. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder.
rdf:langString Cowden syndrome, Sotos syndrome, Smith-Kingsmore syndrome, M-CM, MPPH, 9q34 deletion syndrome, 16p11.2 deletion syndrome
xsd:nonNegativeInteger 9506
rdf:langString
rdf:langString PPP2R5D-related intellectual disability, mental retardation, autosomal dominant 35(MRD35)

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