| umls-concept:C0282577 | skos:definition | 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. | lld:umls |
