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:

• ? = unknown
• - = not applicable
• no = non-consanguineous parents
• yes = consanguineous parents

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))
• 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. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age/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.