Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

Keyphrases

• 22q11.2 Deletion Syndrome 100%
• Koolen-de Vries Syndrome 100%
• Facial Phenotyping 100%
• Facial Gestalt 30%
• Truncating Variant 30%
• KANSL1 30%
• Variants of Uncertain Significance 20%
• 17q21.31 Microdeletion 20%
• Pathogenicity 10%
• Intellectual Disability 10%
• Microdeletion 10%
• Facial Dysmorphism 10%
• Facial Features 10%
• Multisystem 10%
• Facial Difference 10%
• Hybrid Model 10%
• Gestalt 10%
• Further Application 10%
• Phenotype Algorithms 10%
• 2D Photographs 10%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%