| http://purl.uniprot.org/diseases/6284 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism."xsd:string |