| http://purl.uniprot.org/diseases/6062 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant disorder manifesting in infancy and characterized by global developmental delay, variably impaired intellectual development, and speech delay. Some patients have seizures, others have autistic features or behavioral abnormalities. Additional variable features include cardiac defects, failure to thrive, or brain imaging anomalies."xsd:string |