| http://purl.uniprot.org/diseases/5681 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy."xsd:string |