| http://purl.uniprot.org/diseases/6071 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and difficulty walking or inability to walk. Affected individuals have early-onset cataracts. Additional variable features are microcephaly, facial dysmorphism, metabolic abnormalities, spasticity, and lymphopenia."xsd:string |