TABLE 1.
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.