All individuals with variants in gene NIPBL

383 entries on 4 pages. Showing entries 1 - 100.
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00050505 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? absent speech, laryngomalacia, plagiocephaly, posteriorly rotated ears, low-set ears, abnormality of the outer ear 1 1 Johan den Dunnen
00102083 P12 - - M no China - >14y - - - ID HP:0001999; HP:0001182; HP:0006101; HP:0002650; intellectual disability (HP:0001249) 1 1 Wenjuan Qiu
00179552 - - - M - Portugal white - 0 - - CDLS moderate CDLS; speech before 24m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; mild mental retardation (IQ:50-80); microcephaly; sit before 9m; walking before 18m; severe post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179553 - PubMed: Oliveira 2010 - F - Portugal African - 0 - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; severe post natal growth retardation; 1 1 Cristina Dias
00179554 - PubMed: Oliveira 2010 - M - Portugal white 0d 0 - - CDLS severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; hirsutism; intra uterine growth retardation; small feet; upper limb defect hands; microcephaly; no urinary anomalies 1 1 Cristina Dias
00179555 - PubMed: Oliveira 2010 - F - Portugal - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; sit after 20m; walking after 42m; severe post natal growth retardation; urinary anomalies 1 1 Cristina Dias
00179556 - PubMed: Oliveira 2010 - F - Portugal white - 0 - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit 9m-2m; walking after 42m; severe post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179557 - PubMed: Oliveira 2010 - F - Portugal white - 0 - - CDLS moderate CDLS; speech?; facial anomalies; cleft palate; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit after 20m; mild post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179558 - PubMed: Oliveira 2010 - M - Portugal - - 0 - - CDLS moderate CDLS; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; small hands; mild mental retardation (IQ:50-80); microcephaly; walking 18m-42m; mild post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179559 - - - F - Portugal - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; severe post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179560 - - - M - Portugal white - 0 - - CDLS moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; walking 18m-42m; severe post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179561 - PubMed: Oliveira 2010 - M - Portugal white - 0 - - CDLS moderate CDLS; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; severe post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179562 - PubMed: Oliveira 2010 - F - Portugal white - 0 - - CDLS mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; mild post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179563 - PubMed: Oliveira 2010 sibling affected F - Portugal - - 0 - - CDLS mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; mild post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179564 - PubMed: Oliveira 2010 sibling affected M - Portugal - - 0 - - CDLS mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no congenital heart defects; no hirsutism; no lower limb defects; no upper limb defect; microcephaly; mild post natal growth retardation; no urinary anomalies 1 1 Cristina Dias
00179565 case 1 PubMed: Lalatta 2007 - M - Italy - - 0 - - CDLS facial anomalies; speech?; no facial cleft; no genital anomalies; no congenital heart defects; hirsutism; no intra uterine growth retardation; small hands; no microcephaly; urinary anomalies 1 1 Cristina Dias
00179566 case 2 PubMed: Lalatta 2007 - M - Italy - - 0 - - CDLS severe CDLS; speech?; facial anomalies; no facial cleft; genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; 1 1 Cristina Dias
00179567 Family II PubMed: Krantz 2004; PubMed: Gillis 2004 half-siblings affected M - - - - 0 - - CDLS mild CDLS; speech?; facial features?; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation; 1 1 Cristina Dias
00179568 Family II PubMed: Krantz 2004; PubMed: Gillis 2004 half-siblings affected F - - - - 0 - - CDLS mild CDLS; speech?; facial anomalies; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation; 1 1 Cristina Dias
00179569 Family II PubMed: Krantz 2004; PubMed: Gillis 2004 half-siblings affected M - - - - 0 - - CDLS mild CDLS; speech?; facial anomalies; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation; 1 1 Cristina Dias
00179570 - PubMed: Krantz 2004; PubMed: Gillis 2004 - M - - - - 0 - - CDLS severe CDLS; speech?; facial anomalies; cleft palate; hirsutism; upper limb defect digit(s); severe mental retardation; 1 1 Cristina Dias
00179571 P29 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS moderate CDLS; speech?; facial features?; genital anomalies; congenital heart defects; small hands; microcephaly; severe post natal growth retardation; 1 1 Cristina Dias
00179572 - PubMed: Krantz 2004 - F - - - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; cleft palate; hirsutism; upper limb defect digit(s); severe mental retardation; severe post natal growth retardation; 1 1 Cristina Dias
00179573 case 1 PubMed: Schoumans 2007 - F - Sweden - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; severe mental retardation; microcephaly; 1 1 Cristina Dias
00179574 - PubMed: Krantz 2004 - M - - - - 0 - - CDLS mild CDLS; speech?; facial anomalies; genital anomalies; hirsutism; small hands; severe mental retardation; severe post natal growth retardation; 1 1 Cristina Dias
00179575 - PubMed: Krantz 2004 - F - - - - 0 - - CDLS severe CDLS; speech?; facial anomalies; hirsutism; upper limb defect digit(s); severe mental retardation; severe post natal growth retardation; 1 1 Cristina Dias
00179576 P13 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS mild CDLS; speech?; facial features?; small hands; microcephaly; 1 1 Cristina Dias
00179577 P18 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS mild CDLS; speech?; facial anomalies; intra uterine growth retardation; small hands; microcephaly; 1 1 Cristina Dias
00179578 P16 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; no facial cleft; gastro-esophageal reflux disease; congenital heart defects; small hands; 1 1 Cristina Dias
00179579 case 2 PubMed: Schoumans 2007 - F - Sweden - - 0 - - CDLS severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; 1 1 Cristina Dias
00179580 case 3 PubMed: Schoumans 2007 - M - Sweden - - 0 - - CDLS severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; 1 1 Cristina Dias
00179581 case 4 PubMed: Schoumans 2007 - M - Sweden - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; severe mental retardation; microcephaly; 1 1 Cristina Dias
00179582 P11 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; congenital heart defects; no upper limb defect; 1 1 Cristina Dias
00179583 case 5 PubMed: Schoumans 2007 - F - Romania - - 0 - - CDLS severe CDLS; speech?; facial anomalies; no gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; 1 1 Cristina Dias
00179584 case 6 PubMed: Schoumans 2007 - M - Turkey - - 0 - - CDLS severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; 1 1 Cristina Dias
00179585 Family XXI PubMed: Krantz 2004; PubMed: Gillis 2004 sibling affected M - - - - 0 - - CDLS mild CDLS; speech?; facial anomalies; hirsutism; small hands; mild post natal growth retardation; 1 1 Cristina Dias
00179586 Family XXI PubMed: Krantz 2004; PubMed: Gillis 2004 sibling affected F - - - - 0 - - CDLS mild CDLS; speech?; facial anomalies; hirsutism; small hands; mild post natal growth retardation; 1 1 Cristina Dias
00179587 P3 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; upper limb defect hands; severe post natal growth retardation; 1 1 Cristina Dias
00179588 P2 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; genital anomalies; hirsutism; small hands; microcephaly; 1 1 Cristina Dias
00179589 case 7 PubMed: Schoumans 2007 - F - Sweden - - 0 - - CDLS mild CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; mild mental retardation (IQ:50-80); microcephaly; 1 1 Cristina Dias
00179590 P37 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS severe CDLS; speech?; facial anomalies; upper limb defect hands; 1 1 Cristina Dias
00179591 P27 PubMed: Tonkin 2004 - - - - - - 0 - - CDLS moderate CDLS; speech?; facial anomalies; small hands; microcephaly; severe post natal growth retardation; 1 1 Cristina Dias
00179592 case 1 PubMed: Niu 2006 sibling affected M - China Asian 1y 0 - - CDLS moderate CDLS; facial anomalies; genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; 1 1 Cristina Dias
00179593 case 2 PubMed: Niu 2006 sibling affected F - China Asian - 0 - - CDLS mild CDLS; facial anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; 1 1 Cristina Dias
00179594 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179595 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179596 patient PubMed: Gillis 2004 - F - - - - 0 - - CDLS severe CDLS; facial anomalies; hirsutism; upper limb defect forearm; 1 1 Cristina Dias
00179597 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179598 patient PubMed: Gillis 2004 - F - - - - 0 - - CDLS severe CDLS; no facial features; hirsutism; upper limb defect forearm; 1 1 Cristina Dias
00179599 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179600 - PubMed: Gillis 2004 - F - - - - 0 - - CDLS facial anomalies; hirsutism; upper limb defect digit(s); 1 1 Cristina Dias
00179601 - PubMed: Gillis 2004 - M - - - - 0 - - CDLS severe CDLS; facial anomalies; hirsutism; upper limb defect forearm; 1 1 Cristina Dias
00179602 - PubMed: Gillis 2004 - M - - - - 0 - - CDLS severe CDLS; facial anomalies; upper limb defect hands; 1 1 Cristina Dias
00179603 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS severe CDLS; intra uterine growth retardation; upper limb defect hands; severe mental retardation; post natal growth retardation; 1 1 Cristina Dias
00179604 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS moderate CDLS; intra uterine growth retardation; no upper limb defect; severe mental retardation; post natal growth retardation; 1 1 Cristina Dias
00179605 - PubMed: Gillis 2004 - M - - - - 0 - - CDLS facial anomalies; hirsutism; 1 1 Cristina Dias
00179606 - PubMed: Gillis 2004 - M - - - - 0 - - CDLS severe CDLS; facial anomalies; upper limb defect hands; 1 1 Cristina Dias
00179607 - PubMed: Gillis 2004 - F - - African - 0 - - CDLS severe CDLS; facial anomalies; hirsutism; upper limb defect hands; 1 1 Cristina Dias
00179608 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179609 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179610 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179611 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS facial anomalies; hirsutism; small feet; upper limb defect digit(s); 1 1 Cristina Dias
00179612 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS facial anomalies; 1 1 Cristina Dias
00179613 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS severe CDLS; facial anomalies; upper limb defect forearm; 1 1 Cristina Dias
00179614 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179615 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179616 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179617 - PubMed: Gillis 2004 - F - - - - 0 - - CDLS facial anomalies; 1 1 Cristina Dias
00179618 - PubMed: Gillis 2004 - F - - - - 0 - - CDLS facial anomalies; cleft palate; intra uterine growth retardation; small hands; 1 1 Cristina Dias
00179619 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS facial anomalies; 1 1 Cristina Dias
00179620 patient PubMed: Gillis 2004 - M - - - - 0 - - CDLS severe CDLS; hirsutism; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; post natal growth retardation; 1 1 Cristina Dias
00179621 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS severe CDLS; facial anomalies; hirsutism; intra uterine growth retardation; upper limb defect hands; severe mental retardation; post natal growth retardation; 1 1 Cristina Dias
00179622 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS moderate CDLS; intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; post natal growth retardation; 1 1 Cristina Dias
00179623 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179624 - PubMed: Gillis 2004 sibling affected M - - - - 0 - - CDLS severe CDLS; facial anomalies; hirsutism; no lower limb defects; upper limb defect hands; 1 1 Cristina Dias
00179625 - PubMed: Gillis 2004 sibling affected M - - - - 0 - - CDLS - 1 1 Cristina Dias
00179626 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179627 - PubMed: Gillis 2004 - F - - - - 0 - - CDLS facial anomalies; hirsutism; small hands; no mental retardation; 1 1 Cristina Dias
00179628 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179629 patient PubMed: Gillis 2004 Affected sister (sample not available) M - - - - 0 - - CDLS - 1 1 Cristina Dias
00179630 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179631 - PubMed: Gillis 2004 - F - - - - 0 - - CDLS mild CDLS; facial anomalies; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; 1 1 Cristina Dias
00179632 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS mild CDLS; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; 1 1 Cristina Dias
00179633 - PubMed: Gillis 2004 - F - - - - 0 - - CDLS facial anomalies; small hands; 1 1 Cristina Dias
00179634 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS mild CDLS; facial anomalies; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; 1 1 Cristina Dias
00179635 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS mild CDLS; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; 1 1 Cristina Dias
00179636 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179637 patient PubMed: Gillis 2004 sibling affected - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179638 patient PubMed: Gillis 2004 sibling affected - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179639 - PubMed: Gillis 2004 - M - - - - 0 - - CDLS facial anomalies; small hands; 1 1 Cristina Dias
00179640 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179641 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS severe CDLS; Right hand ectrodactyly; facial anomalies; upper limb defect hands; 1 1 Cristina Dias
00179642 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179643 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179644 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179645 patient PubMed: Gillis 2004 - - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179646 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS proximaly placed thumbs; facial anomalies; no intra uterine growth retardation; small hands; 1 1 Cristina Dias
00179647 - PubMed: Gillis 2004 brother affected - - - - - 0 - - CDLS facial anomalies; hirsutism; 1 1 Cristina Dias
00179648 patient PubMed: Gillis 2004 sister affected - - - - - 0 - - CDLS - 1 1 Cristina Dias
00179649 - PubMed: Gillis 2004 - - - - - - 0 - - CDLS facial anomalies; small hands; 1 1 Cristina Dias
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