Developmental delay/Intellectual disability |
100% |
Zhu et al. (2015), Takenouchi et al. (2016), Kim et al. (2016), Tokita et al. (2016) |
Brain malformation |
85% |
Zhu et al. (2015), Kim et al. (2016), Tokita et al. (2016) |
Ventricular enlargement |
50% |
Kim et al. (2016) |
Corpus callosum abnormality |
43% |
Kim et al. (2016), Tokita et al. (2016) |
Cortex malformation |
25% |
Kim et al. (2016) |
White matter abnormalities |
18% |
Zhu et al. (2015), Kim et al. (2016) |
Cerebellar abnormalities |
14% |
Kim et al. (2016) |
Other |
18% |
Kim et al. (2016), Tokita et al. (2016) |
Neurological features |
66% |
Zhu et al. (2015), Takenouchi et al. (2016), Kim et al. (2016), Tokita et al. (2016) |
Seizures |
50% |
Zhu et al. (2015), Kim et al. (2016), Tokita et al. (2016) |
Hypotonia |
75% |
Takenouchi et al. (2016), Kim et al. (2016),, Tokita et al. (2016) |
Musculoskeletal abnormalities |
79% |
Kim et al. (2016), Tokita et al. (2016) |
Hypermobility |
28% |
Kim et al. (2016) |
Scoliosis or kyphosis |
14% |
Kim et al. (2016) |
Hemivertebrae |
7% |
Kim et al. (2016) |
Contractures |
7% |
Kim et al. (2016) |
Other |
83% |
Kim et al. (2016), Tokita et al. (2016) |
Eye and/or vision abnormality |
71% |
Kim et al. (2016), Tokita et al. (2016) |
Strabismus |
54% |
Kim et al. (2016), Tokita et al. (2016) |
Suspicion of cortical visual impairment |
18% |
Kim et al. (2016), Tokita et al. (2016) |
Hypermetropia |
21% |
Kim et al. (2016) |
Heart defect |
30% |
Zhu et al. (2015), Takenouchi et al. (2016), Kim et al. (2016), Tokita et al. (2016) |
Gastrointestinal malformation |
39% |
Zhu et al. (2015), Kim et al. (2016) |
Urogenital malformation |
37% |
Kim et al. (2016), Tokita et al. (2016) |
Facial dysmorphism |
100% |
Takenouchi et al. (2016), Kim et al. (2016), Tokita et al. (2016) |
Short stature |
52% |
Takenouchi et al. (2016), Kim et al. (2016), Tokita et al. (2016) |
Craniosynostosis |
10% |
Kim et al. (2016) |