Clinical Trials on 15q13.3 Microdeletion Syndrome

Total 1 results





    • NCT01238250
      Recruiting
      Conditions: 16P11.2 Deletion Syndrome; 16p11.2 Duplications; 1Q21.1 Deletion; 1Q21.1 Microduplication Syndrome (Disorder); ACTL6B; ADNP; AHDC1; ANK2; ANKRD11; ARID1B; ASH1L; ASXL1 Gene Mutation; 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; KAT6A; KATNAL2; KDM5B; KDM6B; KMT2C Gene Mutation; KMT2E; KMT5B; MBD5; MED13L; PACS1; PBRM1; POGZ; PPP2R5D-Related Intellectual Disability; PTCHD1; PTEN Gene Mutation; PURA; REST; SCN2A Encephalopathy; SETBP1 Gene Mutation; SETD5; SMARCA4 Gene Mutation; SMARCC1; SMARCC2; STXBP1 Encephalopathy With Epilepsy; SYNGAP1-Related Intellectual Disability; TBR1; ARHGEF9; HNRNPU; KCNQ2-Related Epileptic Encephalopathy; PPP3CA; 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; 15q11.2-q13.1 Deletions; 15q11.2-q13.1 Duplications; 15Q13.3 Deletion Syndrome; 16p11.2 Triplications; 16P12.2 Microdeletion; 16P13.11 Microdeletion Syndrome (Disorder); 17p11.2 Deletions; 17P11.2 Duplication Syndrome; 17q11.2 Deletions; 17Q11.2 Microduplication Syndrome (Disorder); 17Q12 Microdeletion Syndrome (Disorder); 17Q12 Duplication Syndrome; 17Q21.31 Deletion Syndrome; 17q21.3 Duplications; 22q11.2 Deletion Syndrome; 22Q11.2 Duplication; 22Q13.3 Deletion Syndrome; ACTB; ADSL; AFF2; ALDH5A1; ANK3; ARX; ATRX Gene Mutation; AUTS2 Syndrome; BAZ2B; BCKDK; BRAF Gene Mutation; BRSK2; CACNA1C; CAPRIN1; CASK; CASZ1; CDKL5 Disorder; CHD3; CHD7; CIC; CNOT3; CREBBP Gene Mutation; CSDE1; CTCF; DEAF1; DHCR7; DLG4; DMPK; EBF3; EHMT1; EP300 Gene Mutation; FMR1; FOXG1 Syndrome; GIGYF1; GIGYF2; GRIN1; GRIN2D; HRAS Gene Mutation; IQSEC2-Related Syndromic Intellectual Disability; IRF2BPL; KANSL1; KCNB1; KCNQ3; KDM3B; NEXMIF; KMT2A; KRAS; LZTR1; MAGEL2; MAP2K1 Gene Mutation; MAP2K2 Gene Mutation; MBOAT7; MECP2-Related Severe Neonatal Encephalopathy; MED12 Gene Mutation; MEIS2; MYT1L; NAA15; NBEA; NCKAP1; NF1 Mutation; 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 Encephalopathy; SETD2 Gene Mutation; SHANK2; SHANK3; SHOC2; SIN3A; SLC9A6; SON; SOS1; SOS2; SOX5; SPAST; SRCAP; TAOK1; TANC2; TBCK; TCF20; TCF4; TLK2; TRIO; TRIP12; TSC1 Gene Mutation; TSC2 Gene Mutation; TSHZ3; UBE3A; UPF3B; USP9X; VPS13B; WAC; WDFY3; ZBTB20; ZNF292; ZNF462; 5P Deletion Syndrome; 2Q37 Deletion Syndrome; 9q34 Duplications; 5q15 Deletions; 5q24 Deletions; NR3C2; SYNCRIP; 15q15 Deletions; Additional Genetic Changes Associated With Autism May be Added as Identified