Novel mosaic TRAF7 likely pathogenic variant in an African American family

Keyphrases

• Likely Pathogenic Variant 100%
• TRAF7 100%
• African American Families 100%
• Ptosis 60%
• Developmental Delay 40%
• Dysmorphic Features 40%
• Patent Ductus Arteriosus 40%
• Intestine 20%
• Leukocytes 20%
• Genetic Variation 20%
• Phenotypic Data 20%
• Intellectual Disability 20%
• Young Males 20%
• Young Female 20%
• African American Patients 20%
• Feeding Difficulties 20%
• Atrial Septal Defect 20%
• Familial Cases 20%
• Cardiac Defects 20%
• Non-mosaic 20%
• Malrotation 20%
• African American Ancestry 20%
• Pathogenic Variants 20%
• Limb Anomalies 20%
• Variable Expressivity 20%
• Maxillary Frenulum 20%

Biochemistry, Genetics and Molecular Biology

• Mosaicism 100%
• Genetics 25%
• Leukocyte 25%
• Genetic Variation 25%
• Intellectual Disability 25%
• Genetic Divergence 25%