All individuals with variants in gene DOK7

286 entries on 3 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     

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00035635 - - - - - Germany - - 0 - - ? suspected congenital myasthenia: At the 13 year of life: Gliedergürtelbetonung, scoliosis,vital capacity restricted, dekrement path., family history:sister (55) affected 1 1 Andreas Laner
00035636 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035637 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035638 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035639 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035640 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035641 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035642 - - - - - Germany - - 0 - - ? suspected congenital myasthenia: At the 13 year of life: Gliedergürtelbetonung, scoliosis,vital capacity restricted, , family history:sister (55) affected 1 1 Andreas Laner
00035643 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035644 - - - - - Germany - - 0 - - ? congenital myasthenia and stridor (tracheostomy), percutaneous endoscopic gastrostomy tube, bad general condition during infection 1 1 Andreas Laner
00035645 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035646 - - - - - Germany - - 0 - - ? suspected CMS; pronounced fatigue, hypotonia, ptosis 1 1 Andreas Laner
00035647 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035648 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035649 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035650 - - - - - Germany - - 0 - - ? suspected congenital myasthenia: At the 13 year of life: Gliedergürtelbetonung, scoliosis,vital capacity restricted, dekrement path., family history:sister (55) affected 1 1 Andreas Laner
00035651 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035652 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035653 - - - - - Germany - - 0 - - ? suspected CMS: since delivery hypotonia, myasthenia, progressive fatiguability and weakness over the day, pulmonary infections, acute bronchitis 1 1 Andreas Laner
00035654 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035655 - - - - - Germany - - 0 - - ? suspected CMS 1 1 Andreas Laner
00035656 - - - - - Germany - - 0 - - ? suspected CMS 1 1 Andreas Laner
00035657 - - - - - Germany - - 0 - - ? MGZ #54944: congenital myasthenia with myopathy; MGZ #52428: suspected.okular myasthenia; MGZ #50904: suspected CMS; 1 1 Andreas Laner
00035658 - - - - - Germany - - 0 - - ? suspected CMS; fatigue, hypotonia, ptosis; 1 1 Andreas Laner
00035659 - - - - - Germany - - 0 - - ? suspected CMS; fatigue, hypotonia, ptosis 1 1 Andreas Laner
00035660 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035661 - - - - - Germany - - 0 - - ? suspected CMS; fatigue, hypotonia, ptosis; MGZ #47782: suspected Pena-Shokeir syndrome; MGZ #52958: 2 still-born sons (6. SSM) with akinesia syndrome; (parents are cousins, consanguine also with relatives); MGZ #53591: suspected myast. Syndrome 1 1 Andreas Laner
00035662 - - - - - Germany - - 0 - - ? deficiency of the limbs (esp. pectoral girdle); dysarthria 1 1 Andreas Laner
00035663 - - - - - Germany - - 0 - - ? MGZ #48841: suspected CMS (homozy.); MGZ #50543: suspected fetal akinesia syndrome; MGZ #50338: suspected congenital myasthenia 1 1 Andreas Laner
00035664 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035665 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035666 - - - - - Germany - - 0 - - ? suspected myasthenic syndrome 1 1 Andreas Laner
00035667 - - - - - Germany - - 0 - - ? MGZ #71401: suspected fetal akinesia syndrome; MGZ #70523: suspected CMS 1 1 Andreas Laner
00035668 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035669 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035670 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00080928 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - FADS Fetal akinesia deformation sequence (OMIM:208150) 1 1 Daniel Trujillano
00117928 patient 51 de Natera, 2017 - F no Spain - - 0 - - CMS10 Fatigable muscle weakness 1 2 Ana Topf
00117929 patient 52 de Natera, 2017 - F no Spain - - 0 - - CMS10 - 1 2 Ana Topf
00153053 - - patient has unaffected carrier father - - Germany - - 0 - - CMS - 1 2 Angela Abicht
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 5 1 Florian Erger
00207959 - - - M - Germany - - 0 - - - HP:0002355 (Difficulty walking); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy); HP:0000508 (Ptosis) 1 1 Andreas Laner
00211198 16917026-Ind01 see also PubMed: Beeson 2006, PubMed: Palace 2007 - M - United Kingdom (Great Britain) white >34y 0 - - CMS - 2 2 Johan den Dunnen
00211199 16917026-Ind02 see also PubMed: Beeson 2006, PubMed: Palace 2007 - M - United Kingdom (Great Britain) white >55y 0 - - CMS - 2 1 Johan den Dunnen
00211200 16917026-Ind03 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >63y 0 - - CMS - 2 1 Johan den Dunnen
00211201 16917026-Ind04 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >63y 0 - - CMS - 2 1 Johan den Dunnen
00211202 16917026-Ind05 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >49y 0 - - CMS - 2 1 Johan den Dunnen
00211203 16917026-Ind06 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - United Kingdom (Great Britain) white >49y 0 - - CMS - 2 1 Johan den Dunnen
00211204 16917026-Ind07 see also PubMed: Beeson 2006, PubMed: Palace 2007 - F - India Asian >26y 0 - - CMS - 2 2 Johan den Dunnen
00211205 16917026-Ind08 see also PubMed: Beeson 2006, PubMed: Palace 2007, LGM1 in PubMed: Slater 2006 - F - United Kingdom (Great Britain) white >28y 0 - - CMS - 2 1 Johan den Dunnen
00211206 16917026-Ind09 see also PubMed: Beeson 2006, LGM3 in PubMed: Slater 2006 - M - United Kingdom (Great Britain) white >14y 0 - - CMS - 2 1 Johan den Dunnen
00211207 16917026-Ind10 see also PubMed: Beeson 2006 - - - United Kingdom (Great Britain) white - 0 - - CMS - 2 1 Johan den Dunnen
00211208 16917026-Ind11 see also PubMed: Beeson 2006, PubMed: Palace 2007, LGM8 in PubMed: Slater 2006 sister of 16917026-Ind11b F - United Kingdom (Great Britain) white >50y 0 - - CMS - 2 1 Johan den Dunnen
00211209 16917026-Ind11b see also PubMed: Beeson 2006 brother of 16917026-Ind11 M - United Kingdom (Great Britain) white - 0 - - CMS - 2 1 Johan den Dunnen
00211210 16917026-Ind13 see also PubMed: Beeson 2006, LGM4 in PubMed: Slater 2006 - F - United Kingdom (Great Britain) white >26y 0 - - CMS - 1 1 Johan den Dunnen
00211211 16917026-Ind14 see also PubMed: Beeson 2006, LGM7 in PubMed: Slater 2006 - M - United Kingdom (Great Britain) white >20y 0 - - CMS - 1 1 Johan den Dunnen
00211212 16917026-Ind15 see also PubMed: Beeson 2006 - - - Finland - - 0 - - CMS - 2 1 Johan den Dunnen
00211213 16917026-Ind16 see also PubMed: Beeson 2006 - - - Canada French-Canadian - 0 - - CMS - 2 1 Johan den Dunnen
00211214 16917026-Ind17 see also PubMed: Beeson 2006 - - - Portugal - - 0 - - CMS - 2 1 Johan den Dunnen
00211215 16917026-Ind18 see also PubMed: Beeson 2006 - - - Spain - - 0 - - CMS - 2 1 Johan den Dunnen
00211216 16917026-Ind19 PubMed: Beeson 2006, PubMed: Schara 2009 treated with ephedrine (Schara 2009) M - Germany - - 0 - - CMS - 2 1 Johan den Dunnen
00211217 16917026-Ind20 PubMed: Beeson 2006, PubMed: Schara 2009 treated with ephedrine (Schara 2009) M - Germany - - 0 - - CMS - 2 1 Johan den Dunnen
00211218 16917026-Ind21 see also PubMed: Beeson 2006 - - - Spain - - 0 - - CMS - 2 1 Johan den Dunnen
00211219 16917026-Ind12 see also PubMed: Beeson 2006, LGM5 in PubMed: Slater 2006 - M - United Kingdom (Great Britain) white >22y 0 - - CMS - 2 1 Johan den Dunnen
00211220 18626973-Pat01 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211221 18626973-Pat02 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211222 18626973-Pat03 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211223 18626973-Pat04 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211224 18626973-Pat05 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211225 18626973-Pat06 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211226 18626973-Pat07 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS in utero hypomotility 2 1 Tom Winder
00211227 18626973-Pat08 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS in utero hypomotility 2 1 Tom Winder
00211228 18626973-Pat09 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211229 18626973-Pat10 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211230 18626973-Pat11 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS in utero hypomotility 2 1 Tom Winder
00211231 18626973-Pat12 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211232 18626973-Pat13 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS severe ptosis 2 1 Tom Winder
00211233 18626973-Pat14 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211234 18626973-Pat15 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211235 18626973-Pat16 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - CMS - 2 1 Tom Winder
00211236 17439981-Fam1P1 see PubMed: Muller 2007 - M - Hungary - - 0 - - CMS - 2 1 Johan den Dunnen
00211237 17439981-Fam8P10 see PubMed: Muller 2007 - F - Spain - - 0 - - CMS - 2 1 Johan den Dunnen
00211238 17439981-Fam9P11 PubMed: Muller 2007, PubMed: Schara 2009 treated with ephedrine (Schara 2009) F - Germany - - 0 - - CMS - 2 1 Johan den Dunnen
00211239 17439981-Fam10P12 see PubMed: Muller 2007 - F - Spain - - 0 - - CMS - 2 1 Johan den Dunnen
00211240 17439981-Fam11P13 see PubMed: Muller 2007 - M - Portugal - - 0 - - CMS - 2 1 Angela Abicht
00211241 17439981-Fam12P14 see PubMed: Muller 2007 - F - - South America - 0 - - CMS - 2 1 Angela Abicht
00211242 17439981-Fam1P2 see PubMed: Muller 2007 - M - Hungary - - 0 - - CMS - 2 1 Johan den Dunnen
00211243 17439981-Fam2P3 see PubMed: Muller 2007 - F - Finland - - 0 - - CMS - 2 1 Johan den Dunnen
00211244 17439981-Fam3P4 see PubMed: Muller 2007 - F - Canada - - 0 - - CMS - 2 1 Angela Abicht
00211245 17439981-Fam4P5 see PubMed: Muller 2007 - F - Portugal - - 0 - - CMS - 2 1 Angela Abicht
00211246 17439981-Fam5P6 see PubMed: Muller 2007 - F - Spain - - 0 - - CMS - 2 1 Angela Abicht
00211247 17439981-Fam6P7 see PubMed: Muller 2007 - M - Germany - - 0 - - CMS - 2 1 Johan den Dunnen
00211248 17439981-Fam7P8 see PubMed: Muller 2007 - M - Germany - - 0 - - CMS - 2 1 Angela Abicht
00211249 17439981-Fam8P9 see PubMed: Muller 2007 - M - Spain - - 0 - - CMS - 1 1 Johan den Dunnen
00211250 17439981-Fam8P9 see PubMed: Muller 2007 - M - Spain - - 0 - - CMS - 1 1 Johan den Dunnen
00211251 17452375-Pat05 see PubMed: Palace 2007 - M - United Kingdom (Great Britain) - >19y 0 - - CMS - 1 1 Johan den Dunnen
00211252 17452375-Pat06 see PubMed: Palace 2007 - M - United Kingdom (Great Britain) - >55y 0 - - CMS - 2 1 Johan den Dunnen
00211253 17452375-Pat08 see PubMed: Palace 2007 sister of 17452375-Pat09 F - United Kingdom (Great Britain) - >38y 0 - - CMS - 1 1 Johan den Dunnen
00211254 17452375-Pat09 see PubMed: Palace 2007 sister of 17452375-Pat08 F - United Kingdom (Great Britain) - >45y 0 - - CMS - 1 1 Johan den Dunnen
00211255 17452375-Pat10 see PubMed: Palace 2007 - F - United Kingdom (Great Britain) - >26y 0 - - CMS - 2 1 Johan den Dunnen
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