Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report

Figure 1 Clinical phenotypic characteristics of the proband. A: Adducted thumbs, symmetrical limbs, and permanently stretched limbs; B: No obvious gaze and high hairline; C and D: High arch feet.

Figure 2 Sanger sequencing for detection of mutation. A: Dynein, cytoplasmic 1, heavy chain 1 gene sequencing map of the child with c.5885G>A (p.R1962H) mutation; B: Father without mutation; C: Mother without mutation.