case_images: PMC6854001_01
case_images: PMC6854001_02
case_images: PMC6854001_03
case_images: Occipitofrontal head circumference of the patient. The measurement of 43.5 cm at age 7 was in the 1.00 percentile and below -3 SD.
case_images: fped-07-00457-g0001.jpg
case_images: PMC6854001_03_fped-07-00457-g0001.jpg
case_images: F1
case_images: Upon examination, delayed speech development and microcephaly with an occipitofrontal head circumference of 43.5 cm (<-3SD, Figure 1) were noted.
case_images: Brain magnetic resonance imaging (MRI) of the patient, showing microcephaly and simplified gyrus of the cerebral cortex. (A) Axial T1-weighted image; (B) sagittal T1-weighted image; (C) coronal T1-weighted image.
case_images: fped-07-00457-g0002.jpg
case_images: PMC6854001_03_fped-07-00457-g0002.jpg
case_images: F2
case_images: Reverse DNA sequence chromatography for the patient and her parents. (A) c.883-4_890del. (B) c.1684C>G.
case_images: fped-07-00457-g0003.jpg
case_images: PMC6854001_03_fped-07-00457-g0003.jpg
case_images: F3
case_images: The patient's mother possessed mutations in the WDR62 gene boundary of intron 7 and exon 8 (NM_001083961.1: c.883-4_890del), as shown in Figure 3A, while her father possessed variant in the WDR62 gene at exon 13 (NM_001083961.1: c.1684C>G), as shown in Figure 3B.