Patient | Wu et al | Chien et al | Burnside et al | Shi et al | Present study | ||
---|---|---|---|---|---|---|---|
No.1 | No.2 | No.3 | |||||
Age/Sex | 1y/F | 12y/M | 2y/F | 4y/M | 26y/M | 5y/M | 4y/M |
Size(Mb) | 2.06 | 2.4 | 3.6 | 4.8 | 7.02 | 6 | 2.373 |
Microcephaly | + | − | + | + | − | + | − |
Facial dysmorphism | + | − | + | + | + | + | − |
Epilepsia | − | + | − | − | − | − | − |
Balance/co-ordination problems | − | − | + | + | − | + | + |
Autism spectrum disorder | N.D | + | − | − | − | + | − |
Behavioural problems (type) | N.D | ADHD, impulsivity | − | − | Psychology, neurology | ADHD, hyperactivity, impulsivity | Hyperactivity, impulsivity |
Candidate gene | DLGAP2, CLN8, ARHGEF10 | DLGAP2, CLN8, ARHGEF10 | DLGAP2, CLN8, ARHGEF10, CSMD1 | DLGAP2, CLN8, ARHGEF10,CSMD1 | DLGAP2, CLN8, ARHGEF10 |