All individuals with variants in gene DHCR7

464 entries on 5 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Gender     

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Age at death     

VIP     

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Phenotype details     

Variants     

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00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 1 1 Global Variome, with Curator vacancy
00001956 - - - M ? Germany - - - - - SLOS 2-3 toe syndactyly; hexadactyly 2 1 Division of Human Genetics, Innsbruck
00001957 - - - F ? Germany white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001958 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001959 - - - F ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001960 - - - M ? Germany white - - - - SLOS 2-3 toe syndactyly; hexadactyly; microcephaly; agenesis of corpus callosum 2 1 Division of Human Genetics, Innsbruck
00001961 - - - F ? Germany;Turkey white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001962 - - - M ? Germany white - - - - SLOS 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001963 - - - M ? Germany white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00001964 - - - F ? Germany white - - - - SLOS ascertainment clinical presentation; hexadactyly; microcephaly 2 1 Division of Human Genetics, Innsbruck
00001965 - - - F ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; Hexadactyly; hypoplasia of the corpus callosum 2 1 Division of Human Genetics, Innsbruck
00001966 - - - F ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001967 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001968 - - - F ? - - - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00001969 - - - M ? Germany;Poland white - - - - SLOS 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001970 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001971 - - - M ? Germany;Poland white - - - - SLOS ascertainment clinical presentation; postaxial polydactyly, 2-3 toe syndactyly, hypospadia, decreased head circumference 2 1 Division of Human Genetics, Innsbruck
00001972 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001973 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001974 - - - M ? ? (unknown);Germany white - - - - SLOS diagnosis fetal 2 1 Division of Human Genetics, Innsbruck
00001975 - - - M ? Germany white - - - - SLOS diagnosis fetal; ascertainment clinical presentation; postaxial polydactyly of left hand and both feet, 2-4 toe syndactyly, hypospadia, multiple heart defects, lung hypoplasia, hypertelorism, facial dysmorphisms, 2 1 Division of Human Genetics, Innsbruck
00001976 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; hexadactyly 2 1 Division of Human Genetics, Innsbruck
00001977 - - - M ? United Kingdom (Great Britain) white - - - - SLOS ascertainment clinical presentation; severe 2 1 Division of Human Genetics, Innsbruck
00001978 - - since age of 2 years diet at cholesterol; brother is A23 F ? United Kingdom (Great Britain) white - - - - SLOS ascertainment family analysis; facial similarities to her brother, Head circumfrence < 1 SD, hyperactive, aggressive, cleft soft palate, pyloric stenosis 1 1 Division of Human Genetics, Innsbruck
00001979 - PubMed: Nezarati 2002 brother of Patient#0000027 M ? Lebanon white - - - - SLOS ascertainment clinical presentation; microcephaly, developmental delay,minor facial anomalies, minimal 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001980 - PubMed: Nezarati 2002 sister of Patient#0000026 F ? Lebanon white - - - - SLOS ascertainment family analysis; failure to thrive, mild splenomegaly, moderate global cognitive delay, chronic severe behavioral problems, attention deficit disorder, 2, 3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001981 - - - F ? Austria - - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00001982 - - brother of A29 M ? United Kingdom (Great Britain) white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly, polydactyly, heart anomaly, severe hypospadia, mikrocephalie 2 1 Division of Human Genetics, Innsbruck
00001983 - - sister of A28 F ? United Kingdom (Great Britain) white - - - - SLOS ascertainment family analysis; 2-3 toe syndactyly; microcepahly, 2 1 Division of Human Genetics, Innsbruck
00001984 - - - F ? United Kingdom (Great Britain) white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly, 2 1 Division of Human Genetics, Innsbruck
00001985 - - - F ? Switzerland;Poland white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; microcephaly 2 1 Division of Human Genetics, Innsbruck
00001986 - - - F ? Switzerland;Poland white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly 2 1 Division of Human Genetics, Innsbruck
00001987 - - fetus for retrospective diagnostic; gender is not sure ? ? United Kingdom (Great Britain) white - - - - SLOS diagnosis fetal 2 1 Division of Human Genetics, Innsbruck
00001988 - PubMed: Ko 2010 Patient from Ko et al. 2010 M ? Korea, South (Republic) Asian - - - - SLOS neonatal cholestasis, microcephaly, micrognathia, a small nose with anteverted nares, ambiguous genitalia, cleft palate, simian line, (bilateral) 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001989 - - - F ? Austria;Poland white - - - - SLOS 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001990 - - - ? ? Germany white - - - - SLOS diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001991 - - - F ? Moldova;Germany white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00001992 - - - F ? Ireland white - - - - SLOS - 1 1 Division of Human Genetics, Innsbruck
00001993 - - - M ? Ireland white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00001994 - - - F ? Ireland white - - - - SLOS ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease 2 1 Division of Human Genetics, Innsbruck
00001995 - - - M ? Spain white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001996 - - - M ? Spain white - - - - SLOS ascertainment clinical presentation; cleft palate, polydactyly, 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00001997 - - - M ? Germany white 00y01m15d - - - SLOS ascertainment clinical presentation; microcephaly, 2-3 toe syndactyly, multiple facial dysmorphisms, cataracts, hexadactyly, cleft hard palate, progressive liver disease, ambigious genitalia 2 1 Division of Human Genetics, Innsbruck
00001998 - - - M ? United Kingdom (Great Britain);Cyprus white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001999 - - - M ? Germany white - - - - SLOS 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002000 - - - ? ? Germany white - - - - SLOS diagnosis fetal 2 1 Division of Human Genetics, Innsbruck
00002001 - - - F ? Turkey white - - - - SLOS 2-3 toe syndactyly, blond hair 2 1 Division of Human Genetics, Innsbruck
00002002 - - - F ? Spain white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002003 - - - F ? Spain white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002004 - - Fetus for respective diagnostic gender is not sure ? ? Spain white - - - - SLOS diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002005 - : - M ? Germany white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002006 - - Nijmegen Therapy study, diet with cholesterol and simvastatin M ? Austria white - - - - SLOS ascertainment clinical presentation; head circumference < 3 perc., seizures, 2-3 toe syndactyly, hypoplasia of lung, simple hypospadia 2 1 Division of Human Genetics, Innsbruck
00002007 - - - F ? Spain white - - - - SLOS ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, 2-3 toe syndactyly, pyloric stenosis 2 1 Division of Human Genetics, Innsbruck
00002008 - - since 14 years cholesterol supplementation F ? Spain white - - - - SLOS ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, cataracts, 2-3 toe syndactyly, clubfoot, pyloric stenosis 2 1 Division of Human Genetics, Innsbruck
00002009 - - since 13 years cholesterol supplementation M ? Spain white - - - - SLOS ascertainment clinical presentation; head circumference < -3 SD, ptosis, anteverted nares, 2-3 toe syndactyly, clubfoot, pyloric stenosis 2 1 Division of Human Genetics, Innsbruck
00002010 - - Fetus for retrospective diagnostic gender is not sure ? ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002011 - - - F ? Germany white - - - - SLOS no 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002012 - - Fetus for retrospective diagnistic gender is not sure ? ? Germany white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002013 - - - F ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002014 - - - F ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002015 - - Fetus for retrospective diagnostic gender is not sure ? ? Germany white - - - - SLOS diagnosis fetal 2 1 Division of Human Genetics, Innsbruck
00002016 - - - M ? Germany white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002017 - - - ? ? Germany white - - - - SLOS diagnosis fetal; 2-3 toe syndactyly, failure to thrive 1 1 Division of Human Genetics, Innsbruck
00002018 - - - M ? Germany white - - - - SLOS - 1 1 Division of Human Genetics, Innsbruck
00002019 - - diet with cholesterol M ? Finland;Morocco white - - - - SLOS ascertainment clinical presentation; head circumference < 2 perc., 2-3 toe syndactyly, high arched palate with posterior cleft, micrognathia, wide nasal root, simple hypospadia 2 1 Division of Human Genetics, Innsbruck
00002020 - - see paper S. Kalb et al 2010 M ? Turkey white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002021 - - - M ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002022 - - - M ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002023 - - - F ? Hungary white - - - - SLOS died 2006 2 1 Division of Human Genetics, Innsbruck
00002024 - - - F ? Switzerland white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002025 - - fetus died F ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002026 - - - F ? Spain white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002027 - - - F ? Italy white - - - - SLOS ascertainment clinical presentation; seizures, bifid uvula, minimal 2-3 toe syndactyly, pyloric stenosis 2 1 Division of Human Genetics, Innsbruck
00002028 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; corpus callosum hypoplasia, polydactyly 2 1 Division of Human Genetics, Innsbruck
00002029 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002030 - - - M ? Germany white - - - - SLOS ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002031 - - - F ? Italy white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002032 - - - F ? Italy white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002033 - - - M ? Italy white - - - - SLOS ascertainment clinical presentation; no 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002034 - - - M ? Italy white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002035 - - - F ? Italy white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00002036 - - - M ? Italy white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00002037 - - - M ? Italy white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002038 - - fetus for retrospective diagnostic gender is not sure ? ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002039 - - - M ? United States white - - - - SLOS ascertainment clinical presentation; 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002040 - - - M ? United States white - - - - SLOS 2-3 toe syndactyly 2 1 Division of Human Genetics, Innsbruck
00002041 - - - M ? United Kingdom (Great Britain) white - - - - SLOS ascertainment unknown 2 1 Division of Human Genetics, Innsbruck
00002042 - - - F ? Germany white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002043 - - - M ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002044 - - - F ? United Kingdom (Great Britain) white - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002045 - - - F ? Italy white - - - - SLOS 2-3 toe syndactyly, seizures, hypoplasia of the corpus callosum 2 1 Division of Human Genetics, Innsbruck
00002046 - - - M ? Italy white - - - - SLOS ascertainment clinical presentation; polydactyly, 2-3 toe syndactyly, simple hypospadia 2 1 Division of Human Genetics, Innsbruck
00002047 - - brother of A194 M ? Poland white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00002048 - - - F ? - - - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00002049 - - - M ? Spain white - - - - SLOS ascertainment clinical presentation; head circumference < -3 SD, severe hypotonia, anteverted nares, coloboma, 2-3 toe syndactyly, polydactyly, reflux vesicoureteral, simple hypospadia 2 1 Division of Human Genetics, Innsbruck
00002050 - - - M ? United Kingdom (Great Britain) white - - - - SLOS ascertainment clinical presentation; mild 2 1 Division of Human Genetics, Innsbruck
00002051 - - - ? ? United States white;Jewish-Ashkenazi - - - - SLOS - 2 1 Division of Human Genetics, Innsbruck
00002052 - PubMed: Witsch-Baumgartner 2000 - ? ? United States white - - - - SLOS diagnosis fetal; ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00002053 - PubMed: Witsch-Baumgartner 2000 - ? ? United Kingdom (Great Britain) white - - - - SLOS ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00002054 - PubMed: Witsch-Baumgartner 2000 - ? ? - - - - - - SLOS ascertainment clinical presentation; mild 2 1 Division of Human Genetics, Innsbruck
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