All individuals with variants in gene FBN1

322 entries on 4 pages. Showing entries 1 - 100.
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00003031 - - - F no Russian Federation russian - 0 - - ? - 1 1 Yulia Rogozhina
00003035 - - - F no Russian Federation russian - 0 - - - - 1 1 Yulia Rogozhina
00004042 - - - M no - (not applicable) russian >01y 0 - - MFS - 1 1 Yulia Rogozhina
00035734 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035735 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035736 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035737 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035738 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035739 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035740 - - - - - Germany - - 0 - - ? non-ischemic CMP und AI Grade 2- 3, both daughters have lens luxation 1 1 Andreas Laner
00035741 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035742 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035743 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035744 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035745 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035746 - - - - - Germany - - 0 - - ? lens luxation bilateral., somatomegaly 1 1 Andreas Laner
00035747 - - - - - Germany - - 0 - - ? lens luxation bilateral., somatomegaly 1 1 Andreas Laner
00035748 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035749 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035750 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035751 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035752 - - - - - Germany - - 0 - - ? lens luxation bilateral 1 1 Andreas Laner
00035753 - - - - - Germany - - 0 - - MFS Marfan syndrome 1 1 Andreas Laner
00035754 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035755 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035756 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035757 - - - - - Germany - - 0 - - MFS Marfan syndrome 1 1 Andreas Laner
00035758 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035759 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035760 - - - - - Germany - - 0 - - ? lens luxation bilateral., somatomegaly 1 1 Andreas Laner
00035761 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035762 - - - - - Germany - - 0 - - ? lens luxation bilateral 1 1 Andreas Laner
00035763 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035764 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035765 - - - - - Germany - - 0 - - MFS Marfan syndrome, familial 1 1 Andreas Laner
00035766 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035767 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035768 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035769 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035770 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035771 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035772 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035773 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035774 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035775 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035776 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035777 - - - - - Germany - - 0 - - ? lens luxation, family history normal 1 1 Andreas Laner
00035778 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035779 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035780 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035781 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035782 - - - - - Germany - - 0 - - ? Weill-Marchesani syndrome 1 1 Andreas Laner
00035783 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035784 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035785 - - - - - Germany - - 0 - - MFS Marfan syndrome 1 1 Andreas Laner
00035786 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035787 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035788 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035789 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035790 - - - - - Germany - - 0 - - MFS Marfan syndrome, familial 1 1 Andreas Laner
00035791 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035792 - - - - - Germany - - 0 - - ? suspected Marfan syndrome 1 1 Andreas Laner
00035793 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035794 - - - - - Germany - - 0 - - ? Myopia, ectopia lentis downward and glaukome in patient, his father, and myopia in his younger brother 1 1 Andreas Laner
00035795 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035796 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035797 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035798 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035799 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035800 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050496 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - 0 Decipher - ? tracheomalacia, tracheoesophageal fistula, preauricular pit, duplication of phalanx of thumb, thoracic scoliosis 1 2 Johan den Dunnen
00053061 - - - M - Iran Iranian - 0 - - MFS Marfan syndrome, ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height 1 1 Ramona Haji-Seyed-Javadi
00053062 - - - F - Sweden - >5y 0 - - ECTOL-1 bilateral ectopia lentis 1 1 Kristina Lagerstedt Robinson
00053063 - - - F - Sweden - >41y 0 - - MFS Marfan syndrome 1 1 Kristina Lagerstedt Robinson
00053064 - - - M - Finland - >41y 0 - - MFS Marfan sydnrome,aortic dissection, dural ectasia 1 1 Kristina Lagerstedt Robinson
00053065 - - - M - Jordan - >37y 0 - - MFS Marfan syndrome,tall stature, aortic dissection, long narrow feet 1 1 Kristina Lagerstedt Robinson
00053066 - - - M - Sweden - >9y 0 - - MFS Marfan syndrome 1 1 Kristina Lagerstedt Robinson
00053067 - - - M no - - - 0 - - MFS Marfan syndrome 1 1 Paul Coucke
00053068 - PubMed: Carmignac 2014, Journal: Carmignac 2014 - M no - - >15y 0 - - ? non-SGS marfanoid-craniosynostosis; craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, no hypertelorism, no proptosis, no downslanting palpebral fissures, no micrognathiaretrognathia, no intellectual disability, hernias, no loss of subcutaneous fat, valvular anomalies, aortic root dilatation requiring surgery in childhood, no myopia 1 1 Johan den Dunnen
00081038 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - MFS Marfan syndrome (OMIM:154700) 1 1 Daniel Trujillano
00100212 - - - - - Germany - - 0 - - MFS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00134051 - - - F - (Germany) - - 0 - - ? HP:0003549 (Abnormality of connective tissue) 1 1 IMGAG
00151813 - - - F - (Germany) - - 0 - - ? Delayed speech and language development (HP:0000750); Generalized joint laxity (HP:0002761) 1 1 IMGAG
00152020 - - - - - - - - 0 - - MFS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00164695 - - - M no Netherlands - - 0 - - Healthy/Control - 1 1 Eveline Boudin
00164697 - - - M no Netherlands white - 0 yes - ? HP:0000098, HP:0001166, HP:0001724, HP:0001382 1 3 Eveline Boudin
00181211 - - - F - - - - 0 - - ? Aortic root aneurysm (HP:0002616); Ascending aortic dissection (HP:0004933) 1 1 IMGAG
00207904 - - - - - - - - 0 - - MFS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00207966 - - - M - Germany - - 0 - - - HP:0001634 (Mitral valve prolapse); HP:0001166 (Arachnodactyly); HP:0000276 (Long face) 1 1 Andreas Laner
00229824 Individual 1 - - M no Italy - 27y 0 - - MFS Dilatation of the aortic root and ascending aorta, minimal insufficiency of the aortic valve, prolapse of the anterior mitral leaflet, mild insufficiency of the tricuspid valve, progressive scoliosis, spontaneous pneumothorax, mild myopia (-2 diopters on the right and -1.5 diopters on the left), bilateral positive wrist sign, bilateral negative thumb sign, apparent enophthalmos, downslanting palpebral fissures, malar hypoplasia, high-arched palate, severe scoliosis, pectus carinatum, bilateral valgus deformity of the elbow, bilateral metatarsus varus, some mildly atrophic post-surgical scars of the thorax, and striae rubrae of the back. 1 1 Carmela Fusco
00229832 individual 2 - - F ? Italy - - 0 - - MASS Chronic back pain, diffuse spondylosis and marked dural ectasias of the lumbar spine. Moderately severe scoliosis since her teens, severe myopia (-6 diopters on the right and -8 dipters on the left) and chronic fatigue. Physical examination showed height 181 cm, weight 80 cm, arm span 188 cm, arm span/height ratio 1.038 (normal), bilaterally positive wrist and thumb signs, hypermobility of fingers but Beighton score 0/9, elbow limitation on both sides, enophthalmos, downslanting palpebral fissures, retrognathia, high-arched palate, striae distensae of the shoulders. Presence of 10 points of systemic features and an aortic root diameter < 2 SD. 1 1 Carmela Fusco
00234330 - - - F - - - - 0 - - ? HP:0005294 (Arterial dissection) 1 1 IMGAG
00239167 - - - F - - - - 0 - - ? HP:0000218 (High palate) 1 1 IMGAG
00248176 - - - M - Russia - >33y 0 - - MFS Myopia, Dental crowding, Pectus excavatum, Joint hypermobility, Arachnodactyly, Tall stature 1 1 Valeriia Apukhtina
00269781 - - - - - - - - 0 - - MFS - 2 1 Gemeinschaftspraxis für Humangenetik Dresden
00269782 - - - - - - - - 0 - - MFS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00274062 P3 PubMed: Wei 2011 - - - China - - 0 - - MFS - 1 1 Johan den Dunnen
00289348 - - - F - - - - 0 - - ? Muscular hypotonia (HP:0001252); Toe syndactyly (HP:0001770); Disproportionate tall stature (HP:0001519); Scoliosis (HP:0002650); Myopathy (HP:0003198) 1 1 Andreas Laner
00291232 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00291233 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 0 Mohammed Faruq
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