All individuals with variants in gene C5orf42

137 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

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Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00028912 2-37 Pat1 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00028916 1-38 Pat5 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00028917 1-42 Pat6 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 3 1 Sanne Savelberg
00028918 1-53 Pat7 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 3 1 Sanne Savelberg
00028919 1-58 Pat8 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 2 1 Sanne Savelberg
00028920 1-64 Pat9 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 2 1 Sanne Savelberg
00028921 2-57 Pat10 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 2 1 Sanne Savelberg
00050340 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00050355 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00050576 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? oculomotor apraxia, global developmental delay, congenital strabismus, rotary nystagmus, lactose intolerance, talipes valgus, constipation 2 1 Johan den Dunnen
00103638 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; breathing abnormality; molar tooth sign 2 1 Johan den Dunnen
00103639 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, ? syndactyly left hand 2 1 Johan den Dunnen
00103640 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign 2 1 Johan den Dunnen
00103641 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality 2 1 Johan den Dunnen
00103642 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign 2 1 Johan den Dunnen
00103643 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, preaxial and postaxial polydactyly fo the four limbs 2 1 Johan den Dunnen
00103644 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign 2 1 Johan den Dunnen
00103645 - PubMed: Srour 2012 - M no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign 2 1 Johan den Dunnen
00103646 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; molar tooth sign 2 1 Johan den Dunnen
00103647 - PubMed: Srour 2012 - F no Canada French Canadian - 0 - - JBTS Developmental delay; oculomotor apraxia; molar tooth sign 2 1 Johan den Dunnen
00103648 - - - - yes Saudi Arabia - - 0 - - JBTS - 1 1 Anas M Alazami
00103649 23169490-FamMKS_F15 PubMed: Shaheen 2013 - - yes Saudi Arabia - - 0 - - MKS see paper; ... 1 1 Anas M Alazami
00103650 - - - M - - - - 0 - - JBTS - 2 1 Anita Rauch
00103651 - - - - - - - - 0 - - JBTS - 2 1 Anita Rauch
00103652 - - - - - - - - 0 - - JBTS - 2 1 Anita Rauch
00103653 - - - - - - - - 0 - - JBTS - 2 1 Anita Rauch
00231413 Fam22 PubMed: Cox 2019 3-generation family, 3 affected (2F, M) F;M - United States - - 0 - - CLP - 1 3 Timothy Cox
00293860 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 30 Mohammed Faruq
00293861 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 53 Mohammed Faruq
00293862 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293863 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293864 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 169 Mohammed Faruq
00293865 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00293866 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293867 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00305032 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00308001 - - - ? - - - - 0 - - ? Cleft palate (HP:0000175); Hand polydactyly (HP:0001161); Foot polydactyly (HP:0001829); Finger syndactyly (HP:0006101); Cleft lip (HP:0410030) 2 1 IMGAG
00358853 Fam11 PubMed: Suzuki 2016 - - no Japan - - 0 - - JBTS severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly 2 1 LOVD
00358867 Fam28 PubMed: Suzuki 2016 - - no Japan - - 0 - - JBTS ; moderate developmental delay; hypotonia, neonatal dysregulated breathing; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; polydactyly; tongue hamartoma 2 1 LOVD
00361895 - - - - - - - - - - - JBTS17 Developmental delay,molar tooth sign and cerebellar vermis agenesis on MRI brain 1 1 Anju Shukla
00363528 Fam301Pat777,301 PubMed: Srour 2015 family, 2 affected F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 2 LOVD
00363529 Fam301Pat1122,301 PubMed: Srour 2015 relative M - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363530 Fam394Pat1113,394 PubMed: Srour 2015 family, 2 affected F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 2 LOVD
00363531 Fam394Pat0,394 PubMed: Srour 2015 relative M - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363532 Fam406Pat1094,406 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363533 Fam468Pat1281,468 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363534 Fam474Pat1304,474 PubMed: Srour 2015 family, 2 affected F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 2 LOVD
00363535 Fam474Fetus474 PubMed: Srour 2015 relative F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363536 Fam479Pat1317,479 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363537 Fam480Pat1320,48 PubMed: Srour 2015 - M - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363538 Fam489Pat1345,489 PubMed: Srour 2015 - M - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363539 Fam551Pat1546,551 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363540 Fam590Pat1673,59 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 1 1 LOVD
00363541 Fam677Pat1951,677 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363542 Fam708Pat2049,708 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00363543 FamHSJ-JBTS-clin3PatHSJ-JBTS-3 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 1 1 LOVD
00363544 FamHSJ-JBTS-clin4PatHSJ-JBTS-4 PubMed: Srour 2015 - F - Canada French-Canadian - 0 - - JBTS see paper; ... 1 1 LOVD
00372147 UW007-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372148 UW033-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372149 UW034-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372150 UW039-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372151 UW119-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372152 UW184-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372153 UW184-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372154 UW185-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372155 UW186-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372156 UW186-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372157 UW190-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372158 UW190-5 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372159 UW191-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372160 UW194-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372161 UW194-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372162 UW195-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372163 UW196-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372164 UW197-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372165 UW199-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372166 UW210-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372167 UW216-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372168 UW222-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372169 UW231-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372170 UW243-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372171 UW245-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372172 UW252-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372173 UW255-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372174 UW268-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372175 UW273-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372176 UW276-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372177 UW278-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372178 UW283-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372179 UW295-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372180 UW297-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372181 UW300-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372182 UW304-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372183 UW305-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372372 UW317-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00373389 1-61 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
00373394 2-45 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
00373395 2-46 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
00373396 2-47 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
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