All individuals with variants in gene FBN2

110 entries on 2 pages. Showing entries 1 - 100.
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Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00065154 - PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland European 00y10m 0 - - SIDS SIDS 1 1 Cordula Haas
00103747 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - M - Switzerland European 22y 0 - - SUD SUD 1 1 Cordula Haas
00132810 09199560-FamS PubMed: Maslen 1997 6-generation family, 18 affecteds (9F, 9M) F;M no Switzerland - - 0 - - DA congenital contractural arachnodactyly 1 18 Johan den Dunnen
00155288 - - - M - (Germany) - - 0 - - ? HP:0002647 (Aortic dissection) 1 1 IMGAG
00225670 25558065-Fam12DG0104 PubMed: Alazami 2015, Journal: Alazami 2015 - - yes Saudi Arabia - - 0 - - ? see paper; …, fetal akinesia with brain ischemia and neonatal death 1 1 Johan den Dunnen
00244858 ED2161 Wischmeijer et al, 2019 submitted - M no Morocco - - 0 - - DA9;CCA - 1 1 Marco Ritelli
00265941 Family 3 PubMed: Caylor 2018 index suspected of having Marfan syndrome; has family history of several maternal relatives with tall stature; history of epilepsy in maternal grandfather; both parents tested; variant in mother; sister tested negative for the variant M ? Pakistan - - 0 - - MFS, TSC 41y mother = focal seizures (HP:0007359);subependymal nodules (HP:0009716). maternal grandfather = epilepsy, index = Lisch nodules (HP:0009737);pneumothorax (HP:0002107);chronic constipation (HP:0012450);scoliosis (HP:0002650);malar hypoplasia (HP:0000272);retrognathia (HP:0000278);micrognathia (HP:0000347);tall forehead (HP:0000348);enophthalmos (HP:0000490)kyphosis. 1 2 Rosemary Ekong
00293715 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293716 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 33 Mohammed Faruq
00293717 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293718 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00293719 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 75 Mohammed Faruq
00293720 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 54 Mohammed Faruq
00295205 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00296693 NCG_00157 PubMed: Haskell 2017 - M - United States white - 0 - - ? thoracic aneurysm, aortic dissection, mitral regurgitation, strong familial history aneurysm 1 1 Johan den Dunnen
00305006 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00306189 87 - - F - China - - - - - DA9;CCA - 1 1 Sha Hong
00307225 D17-1980 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA distal arthrogryposis 1 1 Gianina Ravenscroft
00315500 - - - F - Switzerland - 57y - - - SUD - 1 1 Cordula Haas
00324659 Pat1 Not yet published Unaffected heterozygous parents F no Viet Nam Asian - - - - DA9;CCA Arachnodactyly, contractures, ear anomalies, tall slender stature, congenital cardiac defect, scoliosis, cleft spine 2 1 Katja Kloth
00362004 Pat7AB PubMed: Duvvari 2016 patient - - Netherlands white - 0 - - retinal disease - 1 1 LOVD
00362006 Pat9AB PubMed: Duvvari 2016 patient - - Netherlands white - 0 - - retinal disease - 1 1 LOVD
00362254 Pat44 PubMed: Bahena 2021 - F no Iran - - 0 - - USH Bilateral moderate high-frequency hearing loss, severely reduced visual acuity, photophobia, nyctalopia, severe macular atrophy, diffuse pigmentary changes, and mottling with notable diminished central macular thickness 2 1 Barbara Vona
00380565 WHP64 PubMed: Sun 2018 - F - China - - 0 - - ? Congenital Contractural Arachnodactyly;Distal Arthrogryposis type 7 1 1 LOVD
00390640 family PubMed: Peeters 2021 4-generation family, 10 affected (5F, 5M) F;M no Belgium - - 0 - - ? see paper; ..., carpal tunnel syndrome, pain, numbness and/or decreased grip strength both hands and fingers, atrophy thenar muscles (most affecteds); early onset (youngest 10m) 1 10 Johan den Dunnen
00390642 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390643 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390644 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 28 Johan den Dunnen
00390645 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 2 Johan den Dunnen
00390646 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 4 Johan den Dunnen
00390647 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 6 Johan den Dunnen
00390648 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 5 Johan den Dunnen
00390649 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390650 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 5 Johan den Dunnen
00390651 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390652 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390653 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390654 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 1 Johan den Dunnen
00390655 - PubMed: Peeters 2021 analysis 216 cases carpal tunnel syndrome (adult onset) - - (Belgium);(Netherlands) - - 0 - - CTS adult onset carpal tunnel syndrome 1 2 Johan den Dunnen
00390656 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390657 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390658 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390659 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390660 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390661 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390662 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390663 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390664 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390665 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390666 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390667 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390668 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390669 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390670 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390671 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390672 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390673 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00390674 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00390675 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00390676 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 33 Johan den Dunnen
00390677 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 5 Johan den Dunnen
00390678 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 5 Johan den Dunnen
00390679 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 5 Johan den Dunnen
00390680 - PubMed: Peeters 2021 analysis 714 healthy controls - - Belgium - - 0 - - Healthy/Control - 1 7 Johan den Dunnen
00390681 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390682 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390683 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390684 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390685 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390686 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390687 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390688 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390689 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390690 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390691 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390692 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390693 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390694 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390695 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390696 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390697 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390698 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390699 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390700 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390701 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390702 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00390703 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 12 Johan den Dunnen
00390704 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00390705 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00390706 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 38 Johan den Dunnen
00390707 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 4 Johan den Dunnen
00390708 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 5 Johan den Dunnen
00390709 - PubMed: Peeters 2021 analysis 913 cardiovascular disorder cases - - Belgium - - 0 - - Healthy/Control - 1 7 Johan den Dunnen
00398095 Pat33 PubMed: Overwater 2018 - - - Netherlands - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00398096 Pat34 PubMed: Overwater 2018 - - - Netherlands - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00398097 Pat35 PubMed: Overwater 2018 - - - Netherlands - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00398145 Pat90 PubMed: Overwater 2018 - - - Netherlands - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00398150 Pat95 PubMed: Overwater 2018 - - - Netherlands - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00398151 Pat96 PubMed: Overwater 2018 - - - Netherlands - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
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