Normal Cognition and Behavior in a Smith-Lemli-Opitz Syndrome Patient Who Presented With Hirschsprung Disease

Medicine & Life Sciences

• Smith-Lemli-Opitz Syndrome 100%
• Hirschsprung Disease 80%
• Cognition 49%
• Cholesterol 45%
• 7-dehydrocholesterol reductase 36%
• Problem Behavior 21%
• Missense Mutation 21%
• Dehydrocholesterols 21%
• 7-dehydrocholesterol 16%
• Micrognathism 14%
• Viverridae 14%
• Syndactyly 14%
• Microcephaly 12%
• Loss of Function Mutation 11%
• Human Milk 11%
• Heterozygote 11%
• Feeding and Eating Disorders 10%
• Jaundice 10%
• Karyotype 10%
• Lip 10%
• Breast Feeding 10%
• Physical Examination 8%
• Nose 8%
• Reference Values 8%
• Newborn Infant 7%
• Biopsy 6%
• Pregnancy 6%
• Phenotype 6%
• Mutation 5%
• Enzymes 5%
• Brain 5%