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)