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["Supplementary Table 17. Small ROH Overlapping with DSD Genes (no CNVs) versus CNVS in DECIPHER"]
["Gene","Size Range (Mb) (This Study )","CNV Size Range  (DECIPHER)","Smallest CNV (Kb) in DSD Patient (DECIPHER)","Phenotype (DECIPHER)","Total Px (DECIPHER )","Total Gain (DECIPHER)","Total Loss (DECIPHER)","XX","XY","not known"]
["ALG12","1.1","4.5 Kb-43 Mb","1 Mb","hypospadias (2), micropenis, unilateral renal agenesis, dilatation of real pelvis",89,15,74,42,37,0]
["AMHR2","1.1-1.6","31 Kb-101 Mb",0,0,12,7,5,5,7,0]
["APOA1","1.1","3-134 Mb","20 Mb","labial anomaly, cryptorchidism, micropenia",10,9,1,4,4,2]
["ARL6","1-2.3","227 Kb-104 Mb",0,0,8,5,13,1,5,2]
["BBS1","1.1-2","1-134 Mb",0,0,6,4,2,2,4,0]
["BBS12","3.2","440 Kb-58 Mb","440 Kb","crytorchidism, hypospadias, hydronephrosis",8,5,13,6,11,1]
["BBS4","1.1-2.1","5.3 Kb-80 Mb","57 Kb","multicystic kidney, kidney dysplasia, ureter anomaly, abnormal kidney",22,6,16,9,11,2]
["BBS5","1","27 Kb-148 Mb","10 Mb","renal anomaly, micropenis",22,9,13,7,9,6]
["CALCA","1-1.3","4.3-134Mb",0,0,9,7,2,4,4,1]
["COPS2","1-27","1-80 Mb","19 Mb","micropenis",6,4,2,3,2,1]
["CYP11A1","1.1-27","189 Kb-80 Mb","2.3 Mb","anal atresia (2), ureter anomaly, micropenis, anteriroly placed anus ",29,7,22,14,14,1]
["CYP17A1","1-2.3","3-52 Mb","3 Mb","nephrolithiasis, secondary amenorrhea",6,6,0,1,0,5]
["CYP19A1","1-2.3","274 Kb-80 Mb","12 Mb","multiple renal cysts, micropenis",13,9,4,6,6,1]
["CYP21A2","1.6-18","32 Kb-170 Mb","32 Kb","rectal anomaly",10,6,4,4,6,0]
["CYP26B1","1-2.2","490 Kb-89 Mb",0,0,7,3,4,3,4,0]
["DHCR7","1.2","7.8 Kb-134 Mb",0,0,13,5,4,4,8,1]
["DHH","1.2-1.4","214 Kb-101 Mb","547 Kb","hypospadias, hydrocele testis, abnormal genitourinary system, renal cyst",10,9,1,5,5,0]
["EMX2","1.5","3.9-52 Mb","3.9 Mb","abnormal genital system, renal agenesis",15,7,8,7,8,0]
["FGF10","1-2.8","297 Kb-67 Mb","22 Mb","anteriorly placed anus ",9,7,2,4,3,2]
["FGF2","1.4-3.2","237 Kb-58 Mb","7 Mb","hydronephrosis, hypospadias",19,5,14,6,11,2]
["FGF8","1.2-2.3","530 Kb-52 Mb","3 Mb","nephrolithiasis, secondary amenorrhea",7,7,0,1,1,5]
["FGFR1","1-17","6-146 Mb","8 Mb","urinary system anomaly, cryptorchidism, hydronephrosis, micropenis, anteriorly placed anus",29,26,2,13,11,5]
["FOXL2","1.1-1.5","4 Kb-104 Mb","612 Mb","crytorchidism, renal hypoplasia",22,13,9,10,10,12]
["FRAT1","1.1","1.6-52 Mb",0,0,4,2,2,2,1,1]
["FREM2","1","3.6-96 Mb","96 Mb","abnormal adrenal gland, inverted nipple",12,4,7,6,2,4]
["FZD4","17","2.5-134 Mb",0,0,9,4,5,3,4,2]
["GATA6","1.2-1.8","16-78 Mb",0,0,11,11,0,5,3,3]
["GDF9","37","5.2-18 Mb",0,0,8,3,5,3,4,1]
["GHR","1-2.1","90 Kb-67 Mb","36 Mb","adrenogenital systemanomaly, uterine neoplasm",14,13,1,7,5,2]
["GNRHR","1.9","368 Kb-29 Mb",0,0,13,3,10,5,7,1]
["HNF1B","1","1.1-67 Mb","1.1 Mb","uterine aplasia, cryptorchidism, kidney anomalies (6), XX DSD, vaginal atresia, multiple renal cyst, hypogonadism, anal atresia, kidney dysplasia",133,73,61,51,67,15]
["HSD17B4","1.1-37","176 Kb-26 Mb","14 Mb","horseshoe kidney (2), crytorchidism",18,1,17,6,10,2]
["HSD3B1","1.1-2.8","117 Kb-15 Mb",0,0,13,11,2,4,6,3]
["HSD3B2","1.1-2.8","591 Kb-156 Mb",0,0,10,8,2,4,5,1]
["INSRR","1.5","1.3-104 Mb",0,0,12,10,2,5,6,1]
["KISS1","1.3","1.1-104 Mb","72 Mb","primary ovarian failure",7,7,0,4,2,1]
["LEPR","1.2","5.4-23.4 Mb",0,0,11,4,7,5,5,0]
["LHX3","4.4","407 Kb-141 Mb","22 Mb","cryptorchidism, hypospadias, multiple renal cysts, micropenis, unilateral renal agenesis, urethrocele",31,22,9,13,13,5]
["MAMLD1","1.1-153","340 Kb-155 Mb","9.4 Mb","hypospadias, cryptorchidism (2), premature ovarian failure (2)",97,54,43,53,20,24]
["MAPK1","1","191 Kb-43 Mb","438 Kb","hypospadias, anal atresia, kidney anomaly, micropenis, gynecomastia, cryptorchidism, hypospadias",94,39,55,20,28,46]
["MAPK11","1.1","216 Kb-43 Mb","471 Kb","ambiguous genitalia, hypospadias (2), primary adrenal insufficiency, renal agenesis (3)",91,51,76,41,39,11]
["MAPK14","2.2-18","7-170 Mb",0,0,3,3,0,1,2,0]
["MAPK3","1-3","96 Kb-26 Mb","508 Kb","cryptorchidism (3), micropenis, hydronephrosis, hypospadias",385,148,237,140,207,38]
["NCOR1","1.1","152 Kb-67 Mb",0,0,19,11,8,7,9,3]
["NOTCH4","1.6-2.4","1-170 Mb",0,0,5,4,1,2,3,0]
["PAX6","1.1-1.3","11 Kb-134 Mb","4 Mb","renal neoplasm, ambiguous genitalia, abnormal genitourinary system (2)",23,6,16,9,8,6]
["PROP1","1.1","309 Kb-26 Mb","2.8 Mb","micropenis, renal dysplasia, hypospadias, kidney abnormality, multiple renal cysts",27,18,9,8,11,8]
["PTGDS","1.4-4.4","625 Kb-141 Mb","2 Mb","cryptorchidism, renal cyst",37,21,12,14,14,5]
["PTGS2","1.1-1.5","859 Kb-104 Mb","12 Mb","crytorchidism (2)",15,6,9,8,4,3]
["RHOA ","1.1-5.6","321 Kb-43 Mb","4 Mb","anal atresia",11,6,5,8,2,1]
["SIM1","1-1.5","2-170 Mb","10 Mb","ureteral dysplasia ",21,1,20,8,12,1]
["SOX2","1.2","35 Kb-104 Mb","3.5 Mb","anal atresia, ambiguous genitalia",26,11,14,14,11,2]
["SOX3","1.6","158 Kb-155 Mb","5.3 Mb","urinary incontinence, cryptorchidism (2), XX DSD, primary ovarian failure (2), ovarian cysts",93,48,45,50,20,23]
["SOX8","1.4","220 Kb-15.4 Mb","11.3 Mb","renal cysts",36,18,18,18,13,5]
["STAR","1-17","6-146 Mb","8 Mb","cryptorchidism (2), urinary system anomaly, hydronephrosis, micropenis, anteriorly placed anus",27,25,2,12,11,4]
["WT1","1.2","3.2-134 Mb","4.2 Mb","renal neoplasm, ambiguous genitalia, genitourinary anomalies (2)",12,4,8,3,5,4]