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8p23.1 Duplication Syndrome

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Clinical Trials

This information is provided by ClinicalTrials.gov

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Online Study of Individuals With Genetic Changes and Features of Autism: Simons Searchlight
Status: Recruiting
Last Changed: Feb 24, 2020
First Received: Nov 10, 2010
Disease(s): 16p11.2 Deletions, 16p11.2 Duplications, 1q21.1 Deletions, 1q21.1 Duplications, ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, ASXL3, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1, CUL3, DDX3X, DNMT3A, DSCAM, DST, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2, HNRNPH2, KAT6A, KATNAL2, KDM5B, KDM6B, KMT2C, KMT2E, KMT5B (Previously SUV420H1), MBD5, MED13L, PACS1, PBRM1, POGZ, PPP2R5D, PTCHD1, PTEN, PURA, REST, SCN2A, SETBP1, SETD5, SMARCA4 (BAF190), SMARCC1, SMARCC2, STXBP1, SYNGAP1, TBR1, ARHGEF9, HNRNPU, KCNQ2, PPP3CA (PPP2B), PPP2R1A, SLC6A1, 2p16.3 Deletions, 3q29 Deletions, 3q29 Duplications, 5q35 Deletions, 5q35 Duplications, 7q11.23 Deletions, 7q11.23 Duplications, 8p23.1 Deletions, 8P23.1 Duplication Syndrome (Disorder), 15q11.2-q13.1 Deletions, 15q11.2-q13.1 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16p12.1 Deletions, 16p13.3 Deletions, 17p11.2 Deletions, 17P11.2 Duplication Syndrome, 17q11.2 Deletions, 17q11.2 Duplications, 17q12 Deletions, 17Q12 Duplication Syndrome, 17q21.3 Deletions, 17q21.3 Duplications, 22q11.2 Deletion Syndrome, 22Q11.2 Duplication, 22Q13.3 Deletion Syndrome, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX, AUTS2, BAZ2B, BCKDK, BRAF, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CDKL5, CHD3, CHD7, CIC, CNOT3, CREBBP, CSDE1, CTCF, DEAF1, DHCR7, DLG4, DMPK, EBF3, EHMT1, EP300, FMR1, FOXG1 Syndrome, GIGYF1, GIGYF2, GRIN1, GRIN2D, HRAS, IQSEC2, IRF2BPL, KANSL1, KCNB1, KCNQ3, KDM3B, KIAA2022, KMT2A, KRAS, LZTR1, MAGEL2, MAP2K1 Gene Mutation, MAP2K2 Gene Mutation, MBOAT7, MECP2, MED13, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NF1, NIPBL, NLGN2, NLGN3, NLGN4X, NRAS, NR4A2, NRXN1, NRXN2, NRXN3, NSD1 Gene Mutation, PCDH19, PHF21A, PHF3, PHIP, POMGNT1, PPP1CB, PSMD12, PTPN11 Gene Mutation, RAF1 Gene Mutation, RAI1, RELN, RERE, RFX3, RIMS1, RIT1, RORB, SCN1A, SCN8A, SETD2, SHANK2, SHANK3, SHOC2, SIN3A, SLC9A6 (NHE6), SON, SOS1, SOS2, SOX5, SPAST, SRCAP, TAOK1, TANC2, TBCK, TCF20, TCF4, TLK2, TRIO, TRIP12, TSC1, TSC2, TSHZ3, UBE3A, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, Additional Genetic Changes Associated With Autism May be Added as Identified
Locations: Geisinger Health System, Lewisburg, Pennsylvania, United States