case_images: PMC8441011_01
case_images: Clinical photographs of individual 1 (A) and individual 2 (B). See text for details.
case_images: fgene-12-716874-g0001.jpg
case_images: PMC8441011_02_fgene-12-716874-g0001.jpg
case_images: F1
case_images: Individual 2 is a 7-year-old male with pronounced psychomotor retardation, severe intellectual disability and failure to thrive (Figure 1).
case_images: PMC8441011_02
case_images: Clinical photographs of individual 1 (A) and individual 2 (B). See text for details.
case_images: fgene-12-716874-g0001.jpg
case_images: PMC8441011_02_fgene-12-716874-g0001.jpg
case_images: F1
case_images: Individual 2 is a 7-year-old male with pronounced psychomotor retardation, severe intellectual disability and failure to thrive (Figure 1).