| Condition Brief | Condition Text | View |
|---|---|---|
| None | 16P11.2 Deletion Syndrome | View |
| None | 16p11.2 Duplications | View |
| None | 1Q21.1 Deletion | View |
| None | 1Q21.1 Microduplication Syndrome (Disorder) | View |
| None | ACTL6B | View |
| None | ADNP | View |
| None | AHDC1 | View |
| None | ANK2 | View |
| None | ANKRD11 | View |
| None | ARID1B | View |
| None | ASH1L | View |
| None | BCL11A | View |
| None | CHAMP1 | View |
| None | CHD2 | View |
| None | CHD8 | View |
| None | CSNK2A1 | View |
| None | CTBP1 | View |
| None | CTNNB1 Gene Mutation | View |
| None | CUL3 | View |
| None | DDX3X | View |
| None | DNMT3A | View |
| None | DSCAM | View |
| None | DYRK1A | View |
| None | FOXP1 | View |
| None | GRIN2A | View |
| None | GRIN2B | View |
| None | HIVEP2-Related Intellectual Disability | View |
| None | HNRNPH2 | View |
| None | KATNAL2 | View |
| None | KDM5B | View |
| None | KDM6B | View |
| None | KMT2C Gene Mutation | View |
| None | KMT2E | View |
| None | KMT5B | View |
| None | MBD5 | View |
| None | MED13L | View |
| None | PACS1 | View |
| None | PPP2R5D-Related Intellectual Disability | View |
| None | PTCHD1 | View |
| None | REST | View |
| None | SCN2A Encephalopathy | View |
| None | SETBP1 Gene Mutation | View |
| None | SETD5 | View |
| None | SMARCA4 Gene Mutation | View |
| None | SMARCC2 | View |
| None | STXBP1 Encephalopathy With Epilepsy | View |
| None | SYNGAP1-Related Intellectual Disability | View |
| None | TBR1 | View |
| None | ARHGEF9 | View |
| None | HNRNPU | View |
| None | PPP3CA | View |
| None | PPP2R1A | View |
| None | SLC6A1 | View |
| None | 2p16.3 Deletions | View |
| None | 5q35 Deletions | View |
| None | 5q35 Duplications | View |
| None | 7q11.23 Duplications | View |
| None | 15Q13.3 Deletion Syndrome | View |
| None | 16p11.2 Triplications | View |
| None | 16P12.2 Microdeletion | View |
| None | 16P13.11 Microdeletion Syndrome (Disorder) | View |
| None | 17Q12 Microdeletion Syndrome (Disorder) | View |
| None | 17Q12 Duplication Syndrome | View |
| None | 17Q21.31 Deletion Syndrome | View |
| None | 17q21.3 Duplications | View |
| None | ACTB | View |
| None | ADSL | View |
| None | AFF2 | View |
| None | ALDH5A1 | View |
| None | ANK3 | View |
| None | ARX | View |
| None | ATRX Gene Mutation | View |
| None | AUTS2 Syndrome | View |
| None | BCKDK | View |
| None | BRSK2 | View |
| None | CACNA1C | View |
| None | CAPRIN1 | View |
| None | CASK | View |
| None | CASZ1 | View |
| None | CHD3 | View |
| None | CIC | View |
| None | CNOT3 | View |
| None | CREBBP Gene Mutation | View |
| None | CSDE1 | View |
| None | CTCF | View |
| None | DEAF1 | View |
| None | DHCR7 | View |
| None | DLG4 | View |
| None | EBF3 | View |
| None | EHMT1 | View |
| None | EP300 Gene Mutation | View |
| None | GIGYF1 | View |
| None | GRIN1 | View |
| None | GRIN2D | View |
| None | IQSEC2-Related Syndromic Intellectual Disability | View |
| None | IRF2BPL | View |
| None | KANSL1 | View |
| None | KCNB1 | View |
| None | KDM3B | View |
| None | NEXMIF | View |
| None | KMT2A | View |
| None | MBOAT7 | View |
| None | MEIS2 | View |
| None | MYT1L | View |
| None | NAA15 | View |
| None | NBEA | View |
| None | NCKAP1 | View |
| None | NIPBL | View |
| None | NLGN2 | View |
| None | NLGN3 | View |
| None | NLGN4X | View |
| None | NR4A2 | View |
| None | NRXN1 | View |
| None | NRXN2 | View |
| None | NSD1 Gene Mutation | View |
| None | PHF21A | View |
| None | PHF3 | View |
| None | PHIP | View |
| None | POMGNT1 | View |
| None | PSMD12 | View |
| None | RELN | View |
| None | RERE | View |
| None | RFX3 | View |
| None | RIMS1 | View |
| None | RORB | View |
| None | SCN1A | View |
| None | SETD2 Gene Mutation | View |
| None | SHANK2 | View |
| None | SIN3A | View |
| None | SLC9A6 | View |
| None | SON | View |
| None | SOX5 | View |
| None | SPAST | View |
| None | SRCAP | View |
| None | TAOK1 | View |
| None | TANC2 | View |
| None | TCF20 | View |
| None | TLK2 | View |
| None | TRIO | View |
| None | TRIP12 | View |
| None | UPF3B | View |
| None | USP9X | View |
| None | VPS13B | View |
| None | WAC | View |
| None | WDFY3 | View |
| None | ZBTB20 | View |
| None | ZNF292 | View |
| None | ZNF462 | View |
| None | 2Q37 Deletion Syndrome | View |
| None | 9q34 Duplications | View |
| None | 15q15 Deletions | View |
| None | 15Q24 Deletion | View |
| None | NR3C2 | View |
| None | SYNCRIP | View |
| None | 2q34 Duplication | View |
| None | 2q37.3 Deletion | View |
| None | 6q16 Deletion | View |
| None | 15q11.2 BP1-BP2 Deletion | View |
| None | 16p13.3 Deletion | View |
| None | 17Q11.2 Microduplication Syndrome (Disorder) | View |
| None | 17p13.3 | View |
| None | Xq28 Duplication | View |
| None | CLCN4 | View |
| None | CSNK2B | View |
| None | DYNC1H1 | View |
| None | EIF3F | View |
| None | GNB1 | View |
| None | MED13 | View |
| None | MEF2C | View |
| None | RALGAPB | View |
| None | SCN1B | View |
| None | YY1 | View |
| None | Xp11.22 Duplication | View |
| None | PACS2 | View |
| None | MAOA | View |
| None | MAOB | View |
| None | HNRNPC | View |
| None | HNRNPD | View |
| None | HNRNPK | View |
| None | HNRNPR | View |
| None | HNRNPUL2 | View |
| None | 5P Deletion Syndrome | View |
| None | TCF7L2 Gene Mutation | View |
| None | HECW2 | View |
| Keyword Brief | Keyword Text | View |
|---|---|---|
| None | 16p11.2 | View |
| None | 16p11.2 del | View |
| None | 16p11.2 deletion | View |
| None | 16p11.2 dup | View |
| None | 16p11.2 duplication | View |
| None | chromosome 16 | View |
| None | chromosome 16p | View |
| None | chromosome 16p11 | View |
| None | chromosome 16p11.2 | View |
| None | 1q21.1 | View |
| None | 1q21.1 del | View |
| None | 1q21.1 deletion | View |
| None | 1q21.1 dup | View |
| None | 1q21.1 duplication | View |
| None | chromosome 1 | View |
| None | chromosome 1q | View |
| None | chromosome 1q21 | View |
| None | chromosome 1q21.1 | View |
| None | genetic mutation | View |
| None | genetic variant | View |
| None | gene variant | View |
| None | ADNP | View |
| None | ANKRD11 | View |
| None | ARID1B | View |
| None | ASXL3 | View |
| None | ACTL6B | View |
| None | AHDC1 | View |
| None | BAF190 | View |
| None | ANK2 | View |
| None | ASH1L | View |
| None | BCL11A | View |
| None | CHD2 | View |
| None | CHD8 | View |
| None | CTNNB1 | View |
| None | CUL3 | View |
| None | DYRK1A | View |
| None | FOXP1 | View |
| None | GRIN2B | View |
| None | KDM6B | View |
| None | KMT2E | View |
| None | MBD5 | View |
| None | MED13L | View |
| None | REST | View |
| None | SCN2A | View |
| None | SMARCC2 | View |
| None | SYNGAP1 | View |
| None | HIVEP2 | View |
| None | HNRNPH2 | View |
| None | PPP2R5D | View |
| None | CHAMP1 | View |
| None | CSNK2A1 | View |
| None | CTBP1 | View |
| None | DDX3X | View |
| None | DNMT3A | View |
| None | DSCAM | View |
| None | GRIN2A | View |
| None | KATNAL2 | View |
| None | KDM5B | View |
| None | KMT2C | View |
| None | KMT5B | View |
| None | SUV420H1 | View |
| None | PACS1 | View |
| None | PTCHD1 | View |
| None | SETBP1 | View |
| None | SETD5 | View |
| None | SMARCA4 | View |
| None | STXBP1 | View |
| None | TBR1 | View |
| None | ARHGEF9 | View |
| None | HNRNPU | View |
| None | PPP2B | View |
| None | PPP2R1A | View |
| None | SLC6A1 | View |
| None | PACS2 | View |
| None | MAOA | View |
| None | MAOB | View |
| None | HNRNPC | View |
| None | HNRNPD | View |
| None | HNRNPK | View |
| None | HNRNPR | View |
| None | HNRNPUL2 | View |
| None | 5P Deletion Syndrome | View |
| None | TCF7L2 | View |
| None | HECW2 | View |