Variable clinical severity in TANGO2 deficiency: Case series and literature review

Medicine & Life Sciences

• Organizations 100%
• Rhabdomyolysis 99%
• Dicarboxylic Acids 59%
• acylcarnitine 56%
• Nervous System Malformations 51%
• Lactic Acidosis 51%
• Developmental Disabilities 49%
• Phenotype 47%
• Whole Exome Sequencing 47%
• Creatine Kinase 41%
• Hypothyroidism 40%
• Hypoglycemia 38%
• Tachycardia 38%
• Brain Diseases 37%
• Intellectual Disability 37%
• Fatty Acids 33%
• Exons 33%
• Publications 33%
• Genes 32%
• Urine 28%