Screening for CDG type Ia in Joubert syndrome

Medicine & Life Sciences

• Type In Congenital Disorder of Glycosylation 100%
• Congenital disorder of glycosylation type 1A 91%
• Agenesis of Cerebellar Vermis 77%
• Muscle Hypotonia 29%
• Glycosylation 25%
• phosphomannomutase 21%
• Congenital Disorders of Glycosylation 19%
• Cerebellar Hypoplasia 18%
• Hypoventilation 16%
• Failure to Thrive 15%
• Cerebellar Ataxia 15%
• Isoelectric Focusing 14%
• Dyskinesias 13%
• Transferrin 13%
• Ataxia 12%
• Eye Movements 12%
• Intellectual Disability 11%
• Child 10%
• Fats 9%
• Mutation 6%
• DNA 6%
• Enzymes 6%
• Serum 5%