Lesch-nyhan variant syndrome: Variable presentation in 3 affected family members

Medicine & Life Sciences

• Lesch-Nyhan Syndrome 100%
• Hypoxanthine Phosphoribosyltransferase 89%
• Grandparents 61%
• Phenotype 38%
• Mutation 36%
• Inborn Errors Metabolism 20%
• purine 18%
• Cellular Senescence 17%
• Neurologic Manifestations 16%
• Ambulatory Care Facilities 15%
• Exons 13%
• Molecular Biology 13%
• Genes 12%
• Fibroblasts 11%
• Health Care Outcome Assessment 10%
• Enzymes 8%

Arts & Humanities

• Syndrome 56%
• Phenotype 48%
• Mutation 43%
• Deficiency 20%
• Gene 19%
• Enzymes 15%
• Sequencing 11%
• Infancy 11%
• Metabolism 10%
• Clinic 10%
• Onset 9%
• Cells 7%