Koolen De Vries Syndrome: 1 Clinical Trial

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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Condition(s):16P11.2 Deletion Syndrome; 16p11.2 Duplications; 1Q21.1 Deletion; 1Q21.1 Microduplication Syndrome (Disorder); ACTL6B; ADNP; AHDC1; ANK2; ANKRD11; ARID1B; ASH1L; BCL11A; CHAMP1; CHD2; CHD8; CSNK2A1; CTBP1; CTNNB1 Gene Mutation; CUL3; DDX3X; DNMT3A; DSCAM; DST (Dystonin) Related Epidermolysis Bullosa Simplex; DYRK1A; FOXP1; GRIN2A; GRIN2B; HIVEP2-Related Intellectual Disability; HNRNPH2; KATNAL2; KDM5B; KDM6B; KMT2C Gene Mutation; KMT2E; KMT5B; MBD5; MED13L; PACS1; PBRM1; PPP2R5D-Related Intellectual Disability; PTCHD1; REST; SCN2A Encephalopathy; SETBP1 Gene Mutation; SETD5; SMARCA4 Gene Mutation; SMARCC1; SMARCC2; STXBP1 Encephalopathy With Epilepsy; SYNGAP1-Related Intellectual Disability; TBR1; ARHGEF9; HNRNPU; PPP3CA; PPP2R1A; SLC6A1; 2p16.3 Deletions; 5q35 Deletions; 5q35 Duplications; 7q11.23 Duplications; 15Q13.3 Deletion Syndrome; 16p11.2 Triplications; 16P12.2 Microdeletion; 16P13.11 Microdeletion Syndrome (Disorder); 17Q12 Microdeletion Syndrome (Disorder); 17Q12 Duplication Syndrome; 17Q21.31 Deletion Syndrome; 17q21.3 Duplications; ACTB; ADSL; AFF2; ALDH5A1; ANK3; ARX; ATRX Gene Mutation; AUTS2 Syndrome; BAZ2B; BCKDK; BRSK2; CACNA1C; CAPRIN1; CASK; CASZ1; CHD3; CIC; CNOT3; CREBBP Gene Mutation; CSDE1; CTCF; DEAF1; DHCR7; DLG4; DMPK; EBF3; EHMT1; EP300 Gene Mutation; GIGYF1; GIGYF2; GRIN1; GRIN2D; IQSEC2-Related Syndromic Intellectual Disability; IRF2BPL; KANSL1; KCNB1; KDM3B; NEXMIF; KMT2A; MBOAT7; MEIS2; MYT1L; NAA15; NBEA; NCKAP1; NIPBL; NLGN2; NLGN3; NLGN4X; NR4A2; NRXN1; NRXN2; NRXN3; NSD1 Gene Mutation; PHF21A; PHF3; PHIP; POMGNT1; PSMD12; RELN; RERE; RFX3; RIMS1; RORB; SCN1A; SCN8A Encephalopathy; SETD2 Gene Mutation; SHANK2; SIN3A; SLC9A6; SON; SOX5; SPAST; SRCAP; TAOK1; TANC2; TCF20; TLK2; TRIO; TRIP12; TSHZ3; UPF3B; USP9X; VPS13B; WAC; WDFY3; ZBTB20; ZNF292; ZNF462; 2Q37 Deletion Syndrome; 9q34 Duplications; 15q15 Deletions; 15Q24 Deletion; NR3C2; SYNCRIP; 2q34 Duplication; 2q37.3 Deletion; 6q16 Deletion; 15q11.2 BP1-BP2 Deletion; 16p13.3 Deletion; 17Q11.2 Microduplication Syndrome (Disorder); 17p13.3; Xq28 Duplication; CLCN4; CSNK2B; DYNC1H1; EIF3F; GNB1; MED13; MEF2C; RALGAPB; SCN1B; YY1; Xp11.22 Duplication; PACS2; MAOA; MAOBLast Updated:January 10, 2023Recruiting

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