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5p partial monosomy syndrome

5p deletion syndrome5p minus syndrome5p- syndromeCat cry syndromeChromosome 5p deletion syndromeChromosome 5p- syndromeMonosomy 5p
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Clinical Trials

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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Status: Recruiting
Last Changed: Apr 08, 2020
First Received: Nov 10, 2010
Disease(s): 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
Locations: CUMC/New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, United States
Geisinger Health System, Lewisburg, Pennsylvania, United States