| http://purl.uniprot.org/diseases/4497 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism."xsd:string |