A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability

Medicine & Life Sciences

• Learning Disabilities 100%
• Drug Resistant Epilepsy 92%
• Mental Retardation, X-Linked, Syndromic 10 56%
• Missense Mutation 55%
• 2-methyl-3-hydroxybutyric acid 55%
• tiglylglycine 54%
• Mutation 45%
• Multifunctional Enzymes 42%
• 3 (or 17)-beta-hydroxysteroid dehydrogenase 39%
• Silent Mutation 37%
• Genes 32%
• Valine 32%
• Acidosis 27%
• Intellectual Disability 25%
• Metabolic Syndrome 24%
• Catalytic Domain 24%
• Acids 20%
• Urine 19%
• Mothers 17%