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. 2022 Mar 10;10(5):e1910. doi: 10.1002/mgg3.1910

TABLE 1.

Clinical features of the case reported compared to individuals previously reported in the literature

Deletions Deletions Point mutations
This report Okamoto et al. (2012) Wentzel et al. (2011) Shahdadpuri et al. (2008)
Sample 1 patient 2 patients 6 patients 1 patient 10 patients % 25 patients %
Sex F 1 F, 1 M 4 F, 2 M 1 M 6F, 4 M 13 F, 12 M
Age 6 y/o 6, 7–7, 8 y/o 3, 4–11 y/o 1, 3 y/o 1, 3–11 y/o 1, 3–22 y/o
Delayed growth 0/2 4/6 4/10 40.00% 11/25 44.00%
Perinatal abnormalities 0/2 2/6 2/10 20.00% 9/25 36.00%
Development
HP:0001270 Motor delay + 2/2 6/6 + 10/10 100.00% 24/25 96.00%
HP:0000750 Delayed speech and language development + 1/2 5/6 + 8/10 80.00% 24/25 96.00%
Dismorphic features
HP:0000664 Synophrys + 2/2 5/6 NR 8/9 88.89% 9/25 36.00%
HP:0000490 Deeply set eye + 2/2 4/6 + 8/10 80.00% 12/25 48.00%
HP:0000414 Bulbous nose + 1/2 4/6 + 7/10 70.00% 13/15 86.67%
HP:0000158 Macroglossia 2/2 NR NR 2/3 66.67% 12/12 100.00%
HP:0004467 Preauricular pit + 1/2 NR 2/4 50.00% 2/12 16.67%
HP:0011297 Abnormal digit morphology + 1/2 3/6 5/10 50.00% 14/21 66.67%
HP:0005280 Depressed nasal bridge + 2/2 1/6 NR 4/9 44.44% 9/9 100.00%
HP:0001007 Hirsutism + NR 2/6 NR 3/7 42.86% 7/25 28.00%
HP:0011220 Prominent forehead 2/2 1/6 3/10 30.00% 21/25 84.00%
HP:0000316 Hypertelorism 0/2 NR + 1/4 25.00% 14/19 73.68%
HP:0000369 Low‐set ears 0/2 NR + 1/4 25.00% 5/15 33.33%
HP:0000272 Malar flattening 0/2 1/6 NR 1/9 11.11% 4/9 44.44%
Behavioral problems
HP:0000752 Hyperactivity + NR 4/6 NR 5/7 71.43% 9/24 37.50%
HP:0100852 Anxiety‐related behavior + NR 3/6 NR 4/7 57.14% 9/24 37.50%
HP:0002360 Sleep disturbance + NR 3/6 NR 4/7 57.14% 12/25 48.00%
HP:0000729 Autistic behavior + NR 2/6 NR 3/7 42.86% 7/23 30.43%
Neurological
HP:0001252 Hypotonia 0/2 3/6 + 4/10 40.00% 18/24 75.00%
HP:0001250 Seizures 0/2 2/6 NR 2/9 22.22% 6/24 25.00%
Other
HP:0000486 Strabismus NR 3/6 3/8 37.50% 8/24 33.33%
HP:0002019 Constipation 1/2 2/6 NR 3/9 33.33% 8/14 57.14%
HP:0011968 Feeding difficulties 1/2 1/6 NR 2/9 22.22% 10/24 41.67%
Diagnostic tests
HP:0002353 EEG abnormalities + NR NR NR 1/1 100.00% 2/8 25.00%
HP:0002500 MRI abnormalities NR 0/2 4/6 + 5/9 55.56% 6/21 28.57%
HP:0000364 Hearing abnormality 1/2 2/6 + 4/10 40.00% 3/15 20.00%

Note: NR, not reported; +, present; −, absent.