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Variable expressivity in selected single gene mutations
| Intellectual disability or developmental delay | Autism spectrum disorder | Schizophrenia | Epilepsy | |
|---|---|---|---|---|
| A2BP1 | ✓ | ✓ | ✓ | ✓ |
| AUTS2 | ✓ | ✓ | ·· | ✓ |
| CACNA1C | ✓ | ✓ | ✓ | ✓ |
| CASK | ✓ | ·· | ✓ | ✓ |
| CDKL5 | ✓ | ✓ | ·· | ✓ |
| CNTNAP2 | ✓ | ✓ | ✓ | ✓ |
| DISC1 | ✓ | ✓ | ✓ | ·· |
| EHMT1 | ✓ | ✓ | ✓ | ✓ |
| FMR1 | ✓ | ✓ | ✓ | ✓ |
| FOXP1 | ✓ | ✓ | ·· | ✓ |
| FOXP2 | ✓ | ✓ | ✓ | ·· |
| GRIN2B | ✓ | ✓ | ✓ | ·· |
| MBD5 | ✓ | ✓ | ·· | ✓ |
| MECP2 | ✓ | ✓ | ✓ | ✓ |
| NRXN1 | ✓ | ✓ | ✓ | ✓ |
| PCDH19 | ✓ | ✓ | ✓ | ✓ |
| PTEN | ✓ | ✓ | ·· | ✓ |
| SCN1A | ✓ | ✓ | ·· | ✓ |
| SCN2A | ✓ | ✓ | ·· | ✓ |
| SHANK3 | ✓ | ✓ | ✓ | ·· |
| TCF4 | ✓ | ·· | ✓ | ✓ |
| TSC1 | ✓ | ✓ | ·· | ✓ |
| TSC2 | ✓ | ✓ | ·· | ✓ |
