PMC8650131_01
Pedigree of the patient's family. Squares represent male family members, while circles represent female family members. The diamond symbol indicates unknown gender. Slash indicates that the family member is deceased. Black symbols represent individuals with ID/DD, and blank symbols represent unaffected family members. The gray filled symbols indicates balanced translocation carriers.
fgene-12-741607-g001.jpg
PMC8650131_01_fgene-12-741607-g001.jpg
F1
Facial features, hand and foot characteristics of patients with more obvious symptoms in the family.
fgene-12-741607-g002.jpg
PMC8650131_01_fgene-12-741607-g002.jpg
F2
She walks like a duck (Figure 2A). Except for typical hand bones and joints, the remaining clinical manifestations were the same as IV-10 (Figure 2B). He was illiterate and had no numeracy skills (Figure 2C). His body posture and clinical manifestations were the same as for patient IV-15 (Figure 2D).