All individuals with variants in gene SMARCB1

343 entries on 4 pages. Showing entries 1 - 100.
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00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORP, USH-3B inguinal hernia bilateral, 3 hypomelanitic maculae. 2 1 Gijs Santen
00001504 - - - F - - - - - - - CSS afwijkend ribskelet (vertaling), bifid xyphoid, hypoplastic midface, coarse facial features, low hairlines, horseshoe kidney 2 1 Gijs Santen
00001511 - - - F - - - - - - - CSS haemangioma (in sacral area) 3 1 Gijs Santen
00001514 - - - F - - - - - - - CSS camptodactyly 5th fingers & 2nd-3rd toes, fan-shaped toes arrangement, sandal gap, short 5th metatarsal, - ,fan-shaped toes arrangement, + (very wide), +; social unripeness; 20y-Ca colli uteri (clear cell adenocarcionoma) 1 1 Gijs Santen
00001521 - - - M - - - - - - - CSS Cryptorchidism,Hernia umbilicus 2 1 Gijs Santen
00001522 - - - M - - - - - - - CSS Light skin, inquinal hernia (on right side), Umbilical hernia, Pes planus, Short neck 2 1 Gijs Santen
00001526 - - - M - - - - - - - CSS - 1 1 Gijs Santen
00001529 - - - M - - - - - - - CSS neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia 2 1 Gijs Santen
00001532 - - - F - - - - - - - CSS hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration 2 1 Gijs Santen
00001535 - - - F - - - - - - - CSS tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin 1 1 Gijs Santen
00001539 - - - M - - - - - - - CSS Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated,?,?,?,?,?,?,?,?,?,?,?,?,?,?,?, 1st tooth at 1y 1 1 Gijs Santen
00001541 - - - F - - - - - - - CSS Tracheomalacia in infancy 1 1 Gijs Santen
00001542 - - - F - - - - - - - CSS - 1 1 Gijs Santen
00001546 - - - F - - - - - - - CSS - 2 1 Gijs Santen
00037154 - - - - - Germany - - 0 - - ? hereditary tumour syndrome, Ependymome, neurilemma tumour 1 1 Andreas Laner
00037155 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037156 - - - - - Germany - - 0 - - ? hereditary tumour syndrome, Ependymome, neurilemma tumour 1 1 Andreas Laner
00037157 - - - - - Germany - - 0 - - ? hereditary tumour syndrome, Ependymome, neurilemma tumour 1 1 Andreas Laner
00037158 - - - - - Germany - - 0 - - ? suspected Schwannomatosis, multiple Meningeome 1 1 Andreas Laner
00047313 - PubMed: Santen et al 2013 - F no United Kingdom (Great Britain) Caucasian - 0 - - CSS - 1 1 Gijs Santen
00048017 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 LOVD-team, but with Curator vacancy
00048018 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 LOVD-team, but with Curator vacancy
00048019 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 LOVD-team, but with Curator vacancy
00048020 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 LOVD-team, but with Curator vacancy
00048023 - PubMed: Tsurusaki 2014 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048024 - PubMed: Tsurusaki 2014 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048025 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048026 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048027 - PubMed: Tsurusaki 2014 - ? - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048028 - PubMed: Tsurusaki 2014 - ? - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048029 - PubMed: Tsurusaki 2014 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048030 - PubMed: Wieczorek 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048031 - PubMed: Wieczorek 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048047 - PubMed: Santen 2013 - F - - - - - - - CSS , see paper; … 1 1 Eline van der Sluijs
00048048 - PubMed: Santen 2013 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048049 - PubMed: Santen 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00050617 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, global developmental delay, seizures, microcephaly, abnormal facial shape, agenesis of corpus callosum, cerebellar hypoplasia, broad finger, broad toe, abnormality of the fingertips, hypertrichosis, unilateral ptosis, hypothyroidism, persistence of primary teeth, limited shoulder movement, delayed eruption of teeth, short philtrum, wide mouth, thick lower lip vermilion, brachycephaly, brittle scalp hair, slow-growing hair, lumbosacral hirsutism, hyperlordosis, thoracic kyphosis, scoliosis, coarse facial features 1 1 Johan den Dunnen
00104564 Patient 2 Author submited - M no France - 00y21m 0 - - RTPS-1 - 1 1 Julien Masliah-Planchon
00107735 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107736 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107737 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107738 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107739 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107740 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107741 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107742 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107743 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107744 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107745 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107746 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107747 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107748 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107749 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107750 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107751 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107752 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107753 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107754 - - - - - Germany - - 0 - - RTPS-1 - 2 1 Till Holsten
00107755 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107756 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107811 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107812 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107813 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107814 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107815 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107816 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107817 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107818 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107819 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107820 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107821 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107822 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107823 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107824 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107825 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107826 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107827 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107828 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107829 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107830 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107831 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00147123 30631761-Pat88_S3 PubMed: Han 2018 - - - Korea - - 0 - - developmental delay developmental delay, no epilepsy, hypotonia 1 1 Joonhong Park
00152023 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00152024 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00152025 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00152027 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00173920 Family 9 : III1 PubMed: Ammerlaan AC 2008 - M - - - - 0 - - RTPS-1 myoepithelioma (at 26y), further: intracranial meningioma (at 25y) but without INI1-loss, thought to be induced by radiotherapy 1 1 Julia Lopez
00173921 22 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173922 23 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173923 2 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173924 6 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173925 12 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173926 13 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173927 14 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173928 17 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173929 02-066 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173930 - PubMed: Kordes 2010 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173931 Family 7 PubMed: Swensen JJ 2009 - F - - - 2y 0 - - RTPS-1 - 1 1 Julia Lopez
00173932 - PubMed: Kordes 2010 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173933 09-131 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
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