All individuals with variants in gene SKI

53 entries on 1 page. Showing entries 1 - 53.
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00002663 - - Shprintzen-Goldberg syndrome M no (Netherlands) - - - - - SGS - 1 1 Dorien Schepers
00002664 - - Shprintzen-Goldberg syndrome F ? - - - - - - SGS - 1 1 Dorien Schepers
00002665 - - Shprintzen-Goldberg syndrome M no - - - - - - SGS - 1 1 Dorien Schepers
00002666 - - Shprintzen-Goldberg syndrome F no - - - - - - SGS - 1 1 Dorien Schepers
00002667 - - Shprintzen-Goldberg syndrome M - - - - - - - SGS - 1 1 Dorien Schepers
00002668 - - Shprintzen-Goldberg syndrome F - - - - - - - SGS - 1 1 Dorien Schepers
00002669 - - Shprintzen-Goldberg syndrome F - - - - - - - SGS - 1 1 Dorien Schepers
00002670 - - Shprintzen-Goldberg syndrome M - - - - - - - SGS - 1 1 Dorien Schepers
00002671 - - Shprintzen-Goldberg syndrome M - - - - - - - SGS - 1 1 Dorien Schepers
00002672 - - Shprintzen-Goldberg syndrome M - - - - - - - SGS - 1 1 Dorien Schepers
00002673 - - Shprintzen-Goldberg syndrome F - - - - - - - SGS - 1 1 Dorien Schepers
00053031 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >43y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; no C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; no cleft palate; no club foot deformity; no arterial tortuosity; splenic artery aneurysm 1 1 Johan den Dunnen
00053032 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >6y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; noproptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; no C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; broad/bifid uvula; no club foot deformity; no arterial tortuosity; no other aneurysm 1 1 Johan den Dunnen
00053033 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents M no - - >16y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; no ectopia lentis; no cleft palate; club foot deformity 1 1 Johan den Dunnen
00053034 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >12y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; no mitral valve prolapse; aortic root dilatation; no ectopia lentis; cleft palate; no cleft palate; no club foot deformity; no arterial tortuosity; no other aneurysm 1 1 Johan den Dunnen
00053035 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >22y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; no mitral valve prolapse; aortic root dilatation; no ectopia lentis; no cleft palate; no club foot deformity 1 1 Johan den Dunnen
00053036 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents M no - - >21y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; noproptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; aortic root dilatation; no ectopia lentis; no cleft palate 1 1 Johan den Dunnen
00053037 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >2y - - - SGS craniosynostosis; no dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; no camptodactyly; scoliosis; pectus deformity; joint hypermobility; no joint contracture; hypotonia; developmental delay; aortic root dilatation; no ectopia lentis; cleft palate; no club foot deformity 1 1 Johan den Dunnen
00053038 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents M no - - >6y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; no camptodactyly; no scoliosis; no pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; no mitral valve prolapse; no aortic root dilatation; no ectopia lentis; cleft palate; club foot deformity; splenic artery aneurysm with spontaneous rupture (blank cells, not determined) 1 1 Johan den Dunnen
00053039 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >5y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; no scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; no aortic root dilatation; no ectopia lentis; no cleft palate; no broad/bifid uvula; no club foot deformity 1 1 Johan den Dunnen
00053040 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents F no - - >4y - - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; broad/bifid uvula; no club foot deformity; arterial tortuosity; no other aneurysm 1 1 Johan den Dunnen
00053043 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, father III4 M no - - >42y - - - SGS no craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia 1 5 Johan den Dunnen
00053044 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 3 affecteds, twin sister II2 F no - - >22y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia 1 3 Johan den Dunnen
00053045 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >20y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia 1 1 Johan den Dunnen
00053046 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, son IV2 F no - - >11y - - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia 1 1 Johan den Dunnen
00053047 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, aunt II1 F no - - 44y - - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia; 44y-died of respiratory insufficiency 1 1 Johan den Dunnen
00053048 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, niece III1 F no - - >13y - - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, no scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia 1 1 Johan den Dunnen
00053049 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, nephew III2 M no - - >14y - - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia 1 1 Johan den Dunnen
00053050 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, twin sister II3 F no - - >22y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia 1 1 Johan den Dunnen
00053051 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, sister II4 F no - - >20y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia? 1 1 Johan den Dunnen
00053052 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >18y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, aortic dilatation requiring surgery (16y, aortic root dilatation with Z score=7.014), vertebrobasilar and internal carotid tortuosity, dilated pulmonary-artery root, no myopia 1 1 Johan den Dunnen
00053053 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected mother/father not analysed M no - - >16y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia 1 1 Johan den Dunnen
00053054 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >5y - - - SGS no craniosynostosis, arachnodactyly, pectus deformity, no scoliosis, no joint contractures, no camptodactyly, no foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia 1 1 Johan den Dunnen
00053055 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >21y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, mitral valve prolapse, no aortic root dilatation, no myopia 1 1 Johan den Dunnen
00053056 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - 10y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, no downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, mitral valve prolapse, mitral insufficiency, aortic root dilatation upper normal limit, myopia; 10y died suddenly, autopsy showed severe mitral valve dysplasia with calcifications mitral annulus 1 1 Johan den Dunnen
00053057 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, parents not analysed F no - - >11y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, no scaphocephaly/dolichocephaly, no hypertelorism, proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, aortic root dilatation, no myopia 1 1 Johan den Dunnen
00053058 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, parents not analysed M no - - >32y - - - SGS no craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, mitral insufficiency, aortic root dilatation, myopia 1 1 Johan den Dunnen
00053059 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, parents not analysed M no - - >20y - - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, no downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia 1 1 Johan den Dunnen
00244506 - - - M - - - - - - - ? Aortic valve prolapse (HP:0025578); Aortic regurgitation (HP:0001659); Aortic root aneurysm (HP:0002616) 1 1 IMGAG
00295429 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303329 P38 - - M no India - - - - - SGS Scoliosis (HP:0002650), Bifid uvula (HP:0000193), Wide anterior fontanel (HP:0000260) 1 1 Katta M Girisha
00315019 GDB1419 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00398332 Fam2PatIII4 PubMed: Schubert 2016 3-generation family, affected father/son M - United States - - - - - LDS see paper; ..., mild TAA 1 2 Johan den Dunnen
00407762 191890 - - F no Turkey - - - - - SGS Proptosis, Generalized hypotonia, Dystonia, Plagiocephaly, Failure to thrive, Scoliosis 1 1 Andreas Laner
00418574 PatXXXI PubMed: Almpani 2022 proband - - United States - - - - - SGS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418575 PatXXXII PubMed: Almpani 2022 proband - - United States - - - - - SGS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418576 PatXXXIII PubMed: Almpani 2022 proband - - United States - - - - - SGS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418577 PatXXXIV PubMed: Almpani 2022 proband - - United States - - - - - SGS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418774 - - - M no Italy - - - - - SGS hypermetropy, joint hypermobility, mitral valve prolapse, polyvalvular dysplasia/ insufficiency, kyphoscoliosis , bilateral inguinal hernias 1 1 Carmela Fusco
00418775 - - - F - Italy - - - - - SGS mitral valve prolapse, aneurismatic ovale fossa, megalocornea, joint hypermobility, Intellectual disability 1 1 Carmela Fusco
00448191 Pat107 PubMed: Poli 2024 - F - Chile - - - - - ? motor delay; hearing impairment; strabismus; laryngomalacia; umbilical hernia; skeletal anomalies; dysmorphic facial features 1 1 Johan den Dunnen
00454565 304551 - - M no Germany - - - - - SGS Hypotonia, Mild global developmental delay, Pectus excavatum, Scapular winging, Atrial septal defect, Mildly elevated creatine kinase, Oligohydramnios 1 1 Andreas Laner
00464463 - - - F no Germany - - - - - SGS Intellectual disability, Delayed speech and language development, Obesity, Brachycephaly, Anteverted nares, Synophrys, Abnormal dental enamel morphology, Short stature, Microcephaly, Neurodevelopmental delay 1 1 Andreas Laner
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