Source:http://linkedlifedata.com/resource/umls/id/C0282577
NCI: An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.,MSH: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.