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 |