Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Keyphrases

• Counseling 100%
• Deleterious Variants 100%
• Cerebellar Atrophy 100%
• Complex II Deficiency 100%
• Complex III Deficiency 100%
• Pathogenic Variants 66%
• Family Members 33%
• Cardiomyopathy 33%
• Neoplasia 33%
• Fibroblasts 33%
• Biallelic Variants 33%
• Gastrointestinal Stromal Tumor 33%
• Variants of Uncertain Significance 33%
• Neurological Diseases 33%
• Developmental Delay 33%
• Hypotonia 33%
• Nuclear Genome 33%
• Tricarboxylic Acid Cycle (TCA cycle) 33%
• Pheochromocytoma 33%
• Ataxia 33%
• Paraganglioma 33%
• Nystagmus 33%
• Tremor 33%
• Respiratory Chain Deficiency 33%
• Electron Transport Chain 33%
• Leigh Syndrome 33%
• Chain Link 33%
• Genome Variants 33%

Medicine and Dentistry

• Respiratory Chain 100%
• Complex II Deficiency 100%
• Cerebellum Atrophy 100%
• Complex III Deficiency 100%
• Neoplasm 50%
• Disease 50%
• Gastrointestinal Stromal Tumor 50%
• Neurologic Disease 50%
• Hypotonia 50%
• Citric Acid Cycle 50%
• Developmental Delay 50%
• Pheochromocytoma 50%
• Ataxia 50%
• Myocardial Disease 50%
• Paraganglioma 50%
• Fibroblast 50%

Biochemistry, Genetics and Molecular Biology

• SDHA 100%
• Electron Transport Chain 50%
• Citric Acid Cycle 25%
• Fibroblast 25%