Carbohydrate-Deficient Glycoprotein Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.

**Synonyms:** - Congenital Disorder of Glycosylation - Congenital Disorders of Glycosylation