All individuals with variants in gene KIF11

167 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00001198 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001199 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001200 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001201 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001202 - PubMed: Vasudevan 2005 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001203 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001204 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001205 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001207 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001208 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001209 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001211 - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001212 - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00001213 - PubMed: Hazan 2012 - M yes Turkey - - - - - MCLMR - 1 1 Pia Ostergaard
00002593 - Family II in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002594 - Family III in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002595 - Family IV in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002596 - Family IX in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002597 - Family X in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002598 - Family XII in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002599 - Family XV in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002600 - Family XVIII in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00002601 - Family XX in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00019597 - - - ? no Spain - - - - - MCLMR - 1 1 Pia Ostergaard
00019598 - - - ? ? Spain - - - - - MCLMR - 1 1 Pia Ostergaard
00019599 - - - F ? Spain - - - - - MCLMR - 1 1 Pia Ostergaard
00019600 - - - F ? Turkey - - - - - MCLMR - 1 1 Pia Ostergaard
00019601 - - - M ? United Kingdom (Great Britain) - - - - - MCLMR - 1 1 Pia Ostergaard
00045114 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045115 - - - M no (United Kingdom (Great Britain)) Chinese - - - - MCLMR - 1 1 Pia Ostergaard
00045116 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045117 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045118 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045119 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045120 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045121 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045122 - - - ? ? (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045123 - - - ? ? (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045124 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045125 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045126 - - - ? ? (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045127 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045128 - - - M ? (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045129 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045130 - PubMed: Gunes 2018 - M no Turkey - - - - - MCLMR 3m-prediagnosis of retinoblastoma - right eye enucleated and fitted with a prosthetic eye; right eye revealed diffuse retinal detachment and subretinal hemorrhage; 1y: atypical facial appearance; birth weight, length, and head circumference: 3,230 g (-0.5 SD), 50 cm (-0.06 SD), and 30.1 cm (-2.5 SD), respectively; postnatal echocardiography: perimembranous ventricular septal defect; bilateral edema of the dorsum of the feet - lymphoscintigraphy: no evidence of tracer uptake in the inguinal lymph nodes or lymphatic tracts confirming the primary lymphedema, characteristic of the functional aplasia typically observed in MCLMR; presented with microcephaly (occipital-frontal head circumference (OFC): 38 cm, -6.7 SD), prominent ears, upslanting palpebral fissures, a broad nose with a rounded tip, anteverted nares, long philtrum with a thin upper lip, a high-arched palate, microretrognathia, and congenital lymphedema of the feet; achieved head control, sitting, and walking at 2, 8, and 12 months, respectively; complete blood count, calcium metabolism, thyroid functions, immunoglobulins and T-lymphocyte subsets: normal; echocardiography: detected spontaneous closure of the ventricular septal defect; venous Doppler: no venous insufficiency in the lower extremities; cranial magnetic resonance imaging: microcephaly without any structural abnormalities; fundoscopy, left eye: pale optic disc and lacunar chorioretinal atrophy; electroretinography: generalized rod-cone dysfunction; hearing test: normal; 6y: developmental quotient of Denver II Developmental Test: 60; hyperactive behavior and attention problems, but he could speak fluently in long sentences by the age of 6; followed up regularly, during that time growth parameters (height and weight) normal; 8y: his weight and length were 20 kg (-1.89 SD) and 122 cm (-1.04 SD), respectively; OFC 45 cm (-5.3 SD); left fundus findings unchanged; low visual acuity: counting fingers from 2 meters; optical coherence tomography: severe retinal thinning; bilateral lymphedema remained more pronounced on the right foot 1 1 Pia Ostergaard
00045131 - - - M no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00045132 - - - F no (United Kingdom (Great Britain)) - - - - - MCLMR - 1 1 Pia Ostergaard
00046922 - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) - - - - - - - - ? - 1 1 Pia Ostergaard
00046923 - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) M no - - - - - - ? - 1 1 Pia Ostergaard
00046924 - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) M ? - - - - - - ? - 1 1 Pia Ostergaard
00046925 - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) M ? - - - - - - ? - 1 1 Pia Ostergaard
00046926 - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) F ? - - - - - - ? - 1 1 Pia Ostergaard
00047821 - PubMed: Mirzaa et al 2014 - F no (United States) mixed European - - - - MCLMR - 1 1 Pia Ostergaard
00047847 - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - MCLMR - 1 1 Pia Ostergaard
00047849 - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - MCLMR - 1 1 Pia Ostergaard
00047850 - PubMed: Mirzaa et al 2014 - F no (United States) white - - - - MCLMR - 1 1 Pia Ostergaard
00047851 - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - MCLMR - 1 1 Pia Ostergaard
00057249 - PubMed: Rump 2016 - M - - - - - - - MCLMR Microcephaly HP:0000252 1 1 Birgit Sikkema-Raddatz
00154935 - - - F - Netherlands Dutch 28y - - - EVR;FEVR EVR + microcephaly 1 1 Dyah Karjosukarso
00154936 - - - F ? Netherlands Dutch 57y - - - Healthy/Control - 1 1 Dyah Karjosukarso
00163779 - - - - - - - - - - - microcephaly - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00164217 25934493-PatI10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164218 25934493-PatII1 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164219 25934493-PatIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164220 25934493-PatIV10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164221 25934493-PatVII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164222 25934493-PatVIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164223 25934493-PatIX10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164225 22284827-? PubMed: Ostergaard 2012 - - - - - - - - - MCLMR - 1 1 Pia Ostergaard
00164226 22284827-? PubMed: Ostergaard 2012 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164227 25934493-PatXII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164228 25934493-PatXIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164229 25934493-PatXIV10 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164230 25934493-PatIV1 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00164231 25934493-PatV1 PubMed: Schlogel 2015 - - - Belgium - - - - - MCLMR - 1 1 Pascal Brouillard
00274284 GC21489 Pt3 PubMed: Hull 2019 2 generation family, 1 affected M no United Kingdom (Great Britain) - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252) bilateral retinal folds (HP:0008052) 1 1 Jasmine Chen
00274285 GC20377 Pt 4 PubMed: Hull 2019 2 generation family, 1 affected M no United Kingdom (Great Britain) - - - - - EVR;FEVR, ID exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), rod-cone dystrophy (HP:0000510) 1 1 Jasmine Chen
00274286 GC18797 Pt5 PubMed: Hull 2019 2 generation family, 1 affected M no United Kingdom (Great Britain) - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) 1 1 Jasmine Chen
00274287 GC19303 Pt6 PubMed: Hull 2019 2 generation family, 2 affected M no United Kingdom (Great Britain) - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), retinal fold (HP:0008052) 1 2 Jasmine Chen
00274288 GC21023 Pt7 PubMed: Hull 2019 2 generation family, 2 affected M no United Kingdom (Great Britain) - - - - - EVR;FEVR, ID exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), rod-cone dystrophy (HP:0000510) 1 2 Jasmine Chen
00275482 QT1314 II:1 PubMed: Hu 2015 2 generation, 2 affected F no China - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:00000252) 1 2 Jasmine Chen
00275703 QT964 II:3 PubMed: Hu 2015 2 generation, 2 affected F no China - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252) 1 2 Jasmine Chen
00275829 QT937 II:1 PubMed: Hu 2015 2 generation family, 1 affected F no China - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252) 1 1 Jasmine Chen
00275830 QT761 II:2 PubMed: Hu 2015 isolated M no China - - - - - EVR;FEVR exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), mental retardation (HP:0001249) 1 1 Jasmine Chen
00275832 Patient 1 PubMed: Birtel 2017 2 generation, 2 affected F no Germany - - - - - ADHD, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00275834 Patient 2 PubMed: Birtel 2017 2 generation family 2 affected M no Germany - - - - - EVR;FEVR retinal dystrophy (HP:0000556), seizures (HP:0001250), intracranial cystic lesion (HP:10576) 1 1 Jasmine Chen
00275838 Patient 3 PubMed: Birtel 2017 isolated M no Germany - - - - - EVR;FEVR retinal dystrophy (HP:0000556) 1 1 Jasmine Chen
00286159 Patient 1 PubMed: Li 2016 isolated M ? China - - - - - EVR;FEVR, MCLMR Stage 4 FEVR (HP: 0030490), chorioretinopathy (HP:0000532), microcephaly (HP:0000252) 1 1 Jasmine Chen
00286164 Patient 2 PubMed: Li 2016 isolated F no China - - - - - EVR;FEVR stage 4 FEVR (HP:0030490), microcephaly (HP:000252) 1 1 Jasmine Chen
00286165 Patient 3 PubMed: Li 2016 isolated F no China - - - - - EVR;FEVR stage 5 FEVR (HP:0030490), microphthalmia left eye (HP:0000568) 1 1 Jasmine Chen
00286167 Patient 4 PubMed: Li 2016 isolated F no China - - - - - EVR;FEVR, ID stage 5 FEVR (HP:0030490), microcephaly (HP:0000252), right eye microphthalmia (HP:0000568), mild intellectual disability (HP:0001249) 1 1 Jasmine Chen
00286169 Patient 5 PubMed: Li 2016 isolated, de novo M no China - - - - - EVR;FEVR stage 5 FEVR(HP:0030490), microphthalmia left eye (HP:0000568) 1 1 Jasmine Chen
00286171 Patient 6 PubMed: Li 2016 2 generation family, 1 affected, (father carrier) M no China - - - - - EVR;FEVR bilateral stage 5 FEVR (HP:0030490) 1 1 Jasmine Chen
00286172 Patient 7 PubMed: Li 2016 2 generation family, 2 affected (father, son) M no China - - - - - EVR;FEVR stage 5 FEVR (HP:0030490) 1 1 Jasmine Chen
00305891 5 - - F - China - - - - - MCLMR - 1 1 Sha Hong
00309211 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00320139 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Intestinal pseudo-obstruction (HP:0004389) 1 1 IMGAG
00328491 16007751 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - retinal disease retinal dystrophy (HP:0000556) 1 1 LOVD
00328512 15023722 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - retinal disease chorioretinal dysplasia (HP:0007731), microcephaly global developmental delay (HP:0001263) 1 1 LOVD
00332041 Pat179 PubMed: Birtel 2018 family F - Germany - - - - - retinal disease reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline 1 1 LOVD
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.