C	C84615	Carbohydrate-Deficient Glycoprotein Syndrome	Carbohydrate-Deficient Glycoprotein Syndrome		An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.		C3101	Genetic Disorder			C99147	Neonatal Research Network Terminology