Disease #05245

Official abbreviation SOTOS
Name Sotos syndrome (SOTOS)
OMIM ID -
Inheritance -
Individuals reported having this disease 49
Phenotype entries for this disease 45
Associated with 3 genes APC2, NFIX, NSD1
Associated tissues -
Disease features neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
Remarks -


Individuals

49 entries on 1 page. Showing entries 1 - 49.
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00101321 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101322 - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101323 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101324 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101325 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101326 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101327 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101328 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101329 - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0003 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101330 - - - - - Germany - - 0 - - SOTOS no clinical information available NSD1 NSD1 1 1 Birgit Neitzel
00101331 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101332 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101333 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101334 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101335 - - - - - Germany - - 0 - - SOTOS no clinical information available (sample from collaborating lab) NSD1 NSD1 1 1 Birgit Neitzel
00101336 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101337 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101338 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101339 - - - - - Germany - - 0 - - SOTOS motor retardation, macrocephaly NSD1 NSD1 1 1 Birgit Neitzel
00101340 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101341 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101342 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101343 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101344 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101345 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101346 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101347 - - - - - Germany - - 0 - - SOTOS no clinical information available (sample from collaborating lab) NSD1 NSD1 1 1 Birgit Neitzel
00101348 11896389-Pat PubMed: Kurotaki 2002, PubMed: Nagai 2003 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101349 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101350 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101351 - - - - - Germany - - 0 - - SOTOS - NSD1 NSD1 1 1 Birgit Neitzel
00101352 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101353 11896389-Pat PubMed: Kurotaki 2002, PubMed: Nagai 2003 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101354 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101355 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS classic Sotos NSD1 NSD1 1 1 Johan den Dunnen
00101356 11896389-Pat PubMed: Kurotaki 2002 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 2 1 Johan den Dunnen
00101357 - PubMed: Kurotaki 2002 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 1 19 Johan den Dunnen
00101358 - PubMed: Kurotaki 2002 - - - Japan - - 0 - - SOTOS - NSD1 NSD1 1 1 Johan den Dunnen
00101359 - - - - - - - - 0 - - SOTOS - NSD1 NSD1 1 1 Martine van Belzen
00101360 - - - F no Germany - - 0 - - SOTOS - NSD1 NSD1 1 1 Hartmut Peters
00101361 - - - M no Germany German - 0 - - SOTOS - NSD1 NSD1 1 1 Hartmut Peters
00101362 - - - F - - - - 0 - - SOTOS - NSD1 NSD1 1 1 Martine van Belzen
00101363 - - - - - - - - 0 - - SOTOS - NSD1 NSD1 1 1 Martine van Belzen
00101364 - - - - - - - - 0 - - SOTOS - NSD1 NSD1 1 1 Martine van Belzen
00101365 - - - - - - - - 0 - - SOTOS - NSD1 NSD1 1 1 Martine van Belzen
00101366 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS Sotos-like NSD1 NSD1 1 1 Johan den Dunnen
00101367 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS Sotos-like NSD1 NSD1 1 1 Johan den Dunnen
00101368 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - SOTOS Sotos-like NSD1 NSD1 1 1 Johan den Dunnen
00269369 - - - M ? Italy Caucasian - 0 - - SOTOS Dolichocephaly HP:0000268 Frontal bossing HP:0002007 High anterior hairline HP:0009890 Downslanted palpebral fissures HP:0000494 High-arched palate HP:0000218 Pointed chin HP:0000307 Abnormal cardiac septum morphology HP:0001671 Neonatal hypotonia HP:0001319 Neonatal hypoglycemia HP:0001998 NSD1 NSD1 1 1 Domenico Coviello
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