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%