case_images: PMC5823681_01
case_images: Family pedigrees case 1. The arrow point to the proband case who underwent whole-genome sequencing
case_images: MGG3-6-109-g001.jpg
case_images: PMC5823681_01_MGG3-6-109-g001.jpg
case_images: mgg3341-fig-0001
case_images: Proband is a 2-year-old girl who was born term to first cousin parent after an uneventful pregnancy (Figure 1). Patient had normal head circumference.
case_images: PMC5823681_02
case_images: PMC5823681_03