case_images: PMC11745553_01
case_images: Clinical timeline of proband highlighting key developmental milestones and challenges from neonatal period to present.
case_images: CRIG2025-9751565.003.jpg
case_images: PMC11745553_01_CRIG2025-9751565.003.jpg
case_images: fig3
case_images: PMC11745553_02
case_images: PMC11745553_03
case_images: Pedigree of proband's family showing affected family members. Proband's mother is a carrier of the mutation.
case_images: CRIG2025-9751565.004.jpg
case_images: PMC11745553_03_CRIG2025-9751565.004.jpg
case_images: fig4
case_images: With regard to family history, the proband's mother harbors the same mutation in FMR1 (see Figure 4).