Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00016488 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016489 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016490 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016492 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016493 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016494 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016495 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016496 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016497 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016498 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016499 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016500 |
- |
PubMed: Schanze 2014 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016501 |
- |
PubMed: Schanze 2014 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016502 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016503 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016504 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00016505 |
- |
PubMed: Schanze 2014 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Denny Schanze |
00100339 |
- |
- |
- |
F |
no |
United States |
- |
- |
- |
- |
- |
MRSHSS |
- |
1 |
1 |
Anjali Aggarwal |
00164377 |
P1 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164378 |
P2 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164379 |
P3 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164380 |
P4 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164381 |
P5 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164382 |
P6 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164383 |
P7 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164384 |
P8 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164385 |
P9 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164386 |
P10 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164387 |
P11 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164388 |
P12 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164389 |
P13 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164390 |
P14 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164391 |
P15 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164392 |
P16 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164393 |
P17 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164394 |
P18 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164395 |
P19 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164396 |
P20 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164397 |
P21 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164398 |
P22 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164399 |
P23 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164400 |
P24 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164401 |
P25 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164402 |
P26 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164403 |
P27 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164404 |
P28 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164405 |
P29 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164406 |
P30 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164407 |
P31 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164408 |
P32 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164409 |
P33 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164410 |
P34 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164411 |
P35 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
F |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164412 |
P36 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164413 |
P37 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164414 |
P38 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164415 |
P39 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164416 |
P40 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164417 |
P41 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164418 |
P42 |
PubMed: Priolo 2018, Journal: Priolo 2018 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164443 |
25118028-Pat5 |
PubMed: Klaassens 2015 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164444 |
25118028-Pat6 |
PubMed: Klaassens 2015 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164445 |
26200704-Pat4 |
PubMed: Martinez 2015 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164446 |
26200704-Pat5 |
PubMed: Martinez 2015 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164447 |
Pat1 |
PubMed: Yoneda 2012 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164448 |
Pat2 |
PubMed: Yoneda 2012 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164449 |
22982744-Pat1 |
PubMed: Priolo 2012 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164450 |
261933830-Pat1 |
PubMed: Gurrieri 2015 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164451 |
261933830-Pat2 |
PubMed: Gurrieri 2015 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164452 |
261933830-Pat3 |
PubMed: Gurrieri 2015 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164453 |
28584646-Pat1 |
PubMed: Oshima 2017 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164454 |
26927468-AB |
PubMed: Jezela-Stanek 2016 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164455 |
20673863-PatC |
PubMed: Malan 2010 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00164456 |
29142766-Pat |
PubMed: Lu 2017 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
- |
1 |
1 |
Denny Schanze |
00183657 |
27620904-Pat02 |
PubMed: Martinez 2017, Journal: Martinez 2017 |
- |
- |
- |
Spain |
- |
- |
- |
- |
- |
ID |
- |
1 |
1 |
Johan den Dunnen |
00269895 |
- |
- |
- |
? |
- |
- |
- |
- |
- |
- |
- |
? |
Global developmental delay (HP:0001263); Seizures (HP:0001250); Visual impairment (HP:0000505); Abnormal delivery (HP:0001787) |
1 |
1 |
IMGAG |
00289297 |
- |
- |
- |
F |
- |
- |
- |
- |
- |
- |
- |
? |
Abnormality of globe location (HP:0100886); Arachnodactyly (HP:0001166); Abnormality of finger (HP:0001167); Defect in the atrial septum (HP:0001631); Dysphagia (HP:0002015); Abnormality of the esophagus (HP:0002031); Abnormality of the mandible (HP:0000277); Microretrognathia (HP:0000308); Abnormality of the nose (HP:0000366); Choanal stenosis (HP:0000452); Abnormality of the eye (HP:0000478); Abnormality of cardiac atrium (HP:0005120); Proptosis (HP:0000520); Abnormality of the clitoris (HP:0000056); Clitoral hypertrophy (HP:0008665); Abnormality of the skin (HP:0000951) |
1 |
1 |
Andreas Laner |
00292044 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Mohammed Faruq |
00292045 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
2 |
Mohammed Faruq |
00306239 |
- |
- |
- |
F |
- |
- |
- |
- |
- |
- |
- |
? |
Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263) |
1 |
1 |
Andreas Laner |
00314894 |
Trio78 |
PubMed: Zhu 2015 |
- |
M |
- |
United States |
- |
- |
- |
- |
- |
? |
Macrocephaly, advanced bone age, Gibbus deformity, clinical diagnosis of Sotos syndrome, speech delay, developmental delay. |
1 |
1 |
Johan den Dunnen |
00331526 |
11DG2179 |
PubMed: Maddirevula 2018 |
isolated case |
M |
no |
- |
Arab |
- |
- |
- |
- |
skeletal dysplasia |
Tall stature, Intellectual disability, Seizures, Vomiting, Strabismus |
1 |
1 |
LOVD |
00331527 |
12DG1080 |
PubMed: Maddirevula 2018 |
isolated case |
M |
yes |
- |
Arab |
- |
- |
- |
- |
skeletal dysplasia |
Relative macrocephaly, Intellectual disability, Abnormal facia shape, Prominent forehead, Yes |
1 |
1 |
LOVD |
00361637 |
12DG1080 |
PubMed: Anazi 2017 |
simplex case |
M |
yes |
Saudi Arabia |
- |
- |
- |
- |
- |
ID |
syndromic; intellectual disability, dysmorphism |
1 |
1 |
Johan den Dunnen |
00402809 |
Pat2 |
PubMed: Reyna-Fabian 2024 |
2-generation family, 1 affected, unaffected parents |
M |
no |
Mexico |
- |
- |
- |
- |
none |
MALNS;SOTOS2 |
Exotropia, severe intellectual disability, tall stature, pectus excavatum, arachnodactyly, dolichostenomelia, dolichocephaly, deeply set eye, tooth malposition. |
1 |
1 |
Miriam Erandi Reyna-Fabián |
00403870 |
TF056 |
PubMed: Froukh 2020 |
analysis 103 families with neurodevelopmental disorders |
- |
- |
Jordan |
- |
- |
- |
- |
- |
NDD |
- |
1 |
1 |
Johan den Dunnen |
00435261 |
261600 |
- |
- |
M |
no |
Germany |
- |
- |
- |
- |
- |
MALNS;SOTOS2 |
Macrocephaly, Global developmental delay, Short stature, Neurodevelopmental delay, Hypotonia |
1 |
1 |
Andreas Laner |
00440405 |
PED3647.1 |
PubMed: Nambot 2018 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Johan den Dunnen |
00448198 |
Pat26 |
PubMed: Poli 2024 |
- |
M |
- |
Chile |
- |
- |
- |
- |
- |
? |
developmental delay; tall stature; abnormal aggressive, impulsive or violent behavior; strabismus; skeletal anomalies; dysmorphic facial features |
1 |
1 |
Johan den Dunnen |
00450251 |
COG0101 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth; severe intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450252 |
COG0110 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth; moderate intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450253 |
COG0226 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth; mild intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450254 |
COG0874 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth height; Intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450255 |
COG1671 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth head, overgrowth height; moderate intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450256 |
COG0043 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth; Intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450257 |
COG0058 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth; Intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450258 |
COG0303 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth head, overgrowth height; moderate intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450259 |
COG0706 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth head, overgrowth height; severe intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450260 |
COG1423 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth; Intellectual disability; |
1 |
1 |
Johan den Dunnen |
00450261 |
COG1651 |
PubMed: Tatton-Brown 2017 |
patient |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
overgrowth head; moderate intellectual disability; |
1 |
1 |
Johan den Dunnen |