Disease #05245 (SOTOS (Sotos syndrome (SOTOS)))

Official abbreviation	SOTOS
Name	Sotos syndrome (SOTOS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	50
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

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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50 entries on 1 page. Showing entries 1 - 50.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00101321	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101322	-	PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002	-	-	-	Japan	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101323	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101324	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101325	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101326	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101327	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101328	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101329	-	PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0003	-	-	-	Japan	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101330	-	-	-	-	-	Germany	-	-	-	-	SOTOS	no clinical information available	NSD1	NSD1	1	1	Birgit Neitzel
00101331	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101332	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101333	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101334	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101335	-	-	-	-	-	Germany	-	-	-	-	SOTOS	no clinical information available (sample from collaborating lab)	NSD1	NSD1	1	1	Birgit Neitzel
00101336	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101337	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101338	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101339	-	-	-	-	-	Germany	-	-	-	-	SOTOS	motor retardation, macrocephaly	NSD1	NSD1	1	1	Birgit Neitzel
00101340	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101341	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101342	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101343	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101344	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101345	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101346	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101347	-	-	-	-	-	Germany	-	-	-	-	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	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101349	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101350	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101351	-	-	-	-	-	Germany	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Birgit Neitzel
00101352	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101353	11896389-Pat	PubMed: Kurotaki 2002, PubMed: Nagai 2003	-	-	-	Japan	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101354	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101355	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	classic Sotos	NSD1	NSD1	1	1	Johan den Dunnen
00101356	11896389-Pat	PubMed: Kurotaki 2002	-	-	-	Japan	-	-	-	-	SOTOS	-	NSD1	NSD1	4	1	Johan den Dunnen
00101357	-	PubMed: Kurotaki 2002	-	-	-	Japan	-	-	-	-	SOTOS	-	NSD1	NSD1	1	19	Johan den Dunnen
00101358	-	PubMed: Kurotaki 2002	-	-	-	Japan	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Johan den Dunnen
00101359	-	-	-	-	-	-	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Martine van Belzen
00101360	-	-	-	F	no	Germany	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Hartmut Peters
00101361	-	-	-	M	no	Germany	German	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Hartmut Peters
00101362	-	-	-	F	-	-	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Martine van Belzen
00101363	-	-	-	-	-	-	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Martine van Belzen
00101364	-	-	-	-	-	-	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Martine van Belzen
00101365	-	-	-	-	-	-	-	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Martine van Belzen
00101366	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	Sotos-like	NSD1	NSD1	1	1	Johan den Dunnen
00101367	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	Sotos-like	NSD1	NSD1	1	1	Johan den Dunnen
00101368	-	PubMed: Douglas 2003	-	-	-	United Kingdom (Great Britain)	-	-	-	-	SOTOS	Sotos-like	NSD1	NSD1	1	1	Johan den Dunnen
00269369	-	-	-	M	?	Italy	Caucasian	-	-	-	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
00302567	-	-	-	F	-	Italy	Caucasian	-	-	-	SOTOS	-	NSD1	NSD1	1	1	Domenico Coviello

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How to query

Global Variome shared LOVD