| http://purl.uniprot.org/diseases/6229 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant syndrome characterized by developmental delay, impaired intellectual development, and variable eye abnormalities including anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly."xsd:string |