All individuals with variants in gene NSD1

321 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 2 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000102 - PubMed: Almomani 2011 - - - - - - - - - - - 3 1 Global Variome, with Curator vacancy
00024241 - PubMed: Gilissen 2014 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00036397 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036398 - - - - - Germany - - 0 - - ? multiple abnormalities 1 1 Andreas Laner
00036399 - - - - - Germany - - 0 - - ? Sotos syndrome 1 1 Andreas Laner
00036400 - - - - - Germany - - 0 - - ? severe Muscelhypotonie (floppy infant), akzeleriertes Kopfwachstum, kraniofazial:prominente Stirn, flacher Nasenrücken, leicht nach lateral abfallende Lidachse 1 1 Andreas Laner
00036401 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036402 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050392 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? overgrowth, dyslexia, specific learning disability, macrocephaly, migraine without aura, tall stature 1 1 Johan den Dunnen
00050396 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? large fleshy ears, pigmented nevi, small nail, global developmental delay 1 1 Johan den Dunnen
00050475 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, tall stature, abnormality of the curvature of the vertebral column, thin corpus callosum 1 1 Johan den Dunnen
00080945 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - SOTOS-1 Sotos syndrome 1 (OMIM:117550) 1 1 Daniel Trujillano
00081055 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - SOTOS-1 Sotos syndrome 1 (OMIM:117550) 1 1 Daniel Trujillano
00081819 - - - - - Germany - - 0 - - SOTOS-1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00101249 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101250 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101251 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101252 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101253 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101254 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101255 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101256 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101257 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101258 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101259 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00101260 - - - - - Germany - - 0 - - Healthy/Control not affected 1 1 Birgit Neitzel
00101261 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Martine van Belzen
00101262 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Martine van Belzen
00101263 - - - - - Germany - - 0 - - Healthy/Control - 1 1 Birgit Neitzel
00101264 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Martine van Belzen
00101265 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Martine van Belzen
00101266 - - - - - - - - 0 - - ? - 1 1 Martine van Belzen
00101267 - - - M - - - - 0 - - ? - 1 1 Johan den Dunnen
00101268 - in dbSNP - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101269 - - brother, who stutters since 2y and suffers from allergic asthma; cousin mothers line amily suffers from epilepsy - - Germany - - 0 - - ? muscular hypotonia, infant reluctance to drink, psychomotor retarded, macrosomy, slurred speech (contents hard to make sense of), slightly down-slanting eyes, hypertelorism, ear pretty low-set, plump auricles 1 1 Birgit Neitzel
00101270 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101271 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101272 - - - M - - - - 0 - - ? - 1 1 Martine van Belzen
00101273 - - - - - Germany - - 0 - - ? no clinical information available 1 1 Birgit Neitzel
00101274 - - - F - Denmark - - 0 - - ? - 1 1 Martine van Belzen
00101275 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101276 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101277 - - - M - Portugal - - 0 - - ? - 2 1 Johan den Dunnen
00101278 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101279 - - - - - Germany - - 0 - - ? muscular hypotonia, pretty tall, narrow long face (s)light bitemporal impressions, Orbitaregion rather flattened, forehead prominent (light head-on bossing), ocular region impresses (little bit deep-recumbent eyes, temporally easily down sloping eyelid axis) 1 1 Birgit Neitzel
00101280 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101281 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101282 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101283 - - - M - - - - 0 - - ? - 1 1 Martine van Belzen
00101284 - - - - - Germany - - 0 - - ? macrocephaly, dysmorphic signs and attention deficits 1 1 Birgit Neitzel
00101285 - - - - - Germany - - 0 - - ? tallness 1 1 Birgit Neitzel
00101286 - - - - - Germany - - 0 - - ? no clinical information available 1 1 Birgit Neitzel
00101287 - - - - - Germany - - 0 - - ? no clinical information available 1 1 Birgit Neitzel
00101288 - - - M - Denmark - - 0 - - ? - 1 1 Johan den Dunnen
00101289 - - - - - Germany - - 0 - - ? no clinical information available 1 1 Birgit Neitzel
00101290 - - - - - Germany - - 0 - - ? tallness, small cleft palate and innate neuroblastoma 1 1 Birgit Neitzel
00101291 - - - - - Germany - - 0 - - ? no clinical information available 1 1 Birgit Neitzel
00101292 - - - - - Germany - - 0 - - ? hypotonia, sensomotor retardation, dysmorphic signs, prominent forehead, epicanthus, flat root of nose, dental stance anomalies 1 1 Birgit Neitzel
00101293 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101294 - - - - - Germany - - 0 - - ? combined retardation 1 1 Birgit Neitzel
00101295 - - - - - Germany - - 0 - - ? no clinical information available 2 1 Birgit Neitzel
00101296 - - - - - Germany - - 0 - - ? developmental retardation, especially of language development, macrosomy 1 1 Birgit Neitzel
00101297 - - - - - Germany - - 0 - - ? tallness, psychomotor retardation, accelerated bone ageing, slight dilatation of the lateral ventriculus, as well as anomalies of the midline 1 1 Birgit Neitzel
00101298 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101299 - - - M - Netherlands - - 0 - - ? - 1 1 Johan den Dunnen
00101300 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101301 - - - - - Germany - - 0 - - ? mental retardation as well as retardation of language development, 2 affected sisters 1 1 Birgit Neitzel
00101302 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101303 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101304 - - - - - Germany - - 0 - - ? mental retardation as well as retardation of language development, 2 affected sisters 1 1 Birgit Neitzel
00101305 - - - F - Netherlands Netherlands - 0 - - ? - 1 1 Martine van Belzen
00101306 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101307 - - - M - Canada - - 0 - - ? - 1 1 Martine van Belzen
00101308 - - - - - Germany - - 0 - - ? tallness with accelerated bone ageing 1 1 Birgit Neitzel
00101309 - - - - - Germany - - 0 - - ? tallness, retardation of language development 1 1 Birgit Neitzel
00101310 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101311 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101312 - - - - - Germany - - 0 - - ? psychomotor retardation, macrocephaly 1 1 Birgit Neitzel
00101313 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101314 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101315 - - - - - Germany - - 0 - - ? no clinical information available (sample from collaborating lab) 1 1 Birgit Neitzel
00101316 - - - - - Germany - - 0 - - ? combined retardation 1 1 Birgit Neitzel
00101317 - - - - - Germany - - 0 - - ? tallness, adipositas, macrocephaly, as well as, psychic peculiarities 1 1 Birgit Neitzel
00101318 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101319 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101320 - - - - - Germany - - 0 - - ? - 1 1 Birgit Neitzel
00101321 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101322 - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002 - - - Japan - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101323 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101324 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101325 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101326 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101327 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101328 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101329 - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0003 - - - Japan - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101330 - - - - - Germany - - 0 - - SOTOS no clinical information available 1 1 Birgit Neitzel
00101331 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
00101332 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - 1 1 Johan den Dunnen
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