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. 2019 Sep 26;7(11):e953. doi: 10.1002/mgg3.953

Table 2.

Clinical Features of the ZTTK syndrome reported in literatures to date

Conditions percentage Literatures
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)