http://purl.uniprot.org/diseases/4149 | http://www.w3.org/2000/01/rdf-schema#comment | "A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum."xsd:string |