| http://purl.uniprot.org/diseases/6098 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities."xsd:string |