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
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00081136 |
- |
- |
- |
? |
- |
- |
unknown |
>76y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081137 |
- |
- |
- |
M |
? |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081138 |
- |
- |
- |
M |
? |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081139 |
- |
- |
- |
F |
- |
- |
Chinese |
>39y |
- |
- |
- |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081141 |
- |
- |
- |
F |
- |
- |
Chinese |
>38y |
- |
- |
- |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081143 |
- |
- |
- |
M |
- |
- |
Chinese |
>47y |
- |
- |
- |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081145 |
- |
- |
- |
M |
- |
- |
Chinese |
>35y |
- |
- |
- |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081147 |
- |
- |
- |
F |
- |
- |
white |
>35y |
- |
- |
- |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081149 |
- |
- |
- |
M |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081150 |
- |
- |
- |
F |
- |
- |
- |
>33y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081151 |
- |
- |
- |
M |
- |
- |
Korean |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081153 |
- |
- |
- |
M |
- |
- |
Palestinian Arabic |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081154 |
- |
- |
- |
M |
- |
- |
Chinese |
>47y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081156 |
- |
- |
- |
? |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081157 |
- |
- |
- |
- |
- |
- |
white |
>64y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081158 |
- |
- |
- |
? |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081160 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081161 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081163 |
- |
- |
- |
F |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081165 |
- |
- |
- |
F |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081166 |
- |
- |
- |
M |
- |
- |
Chinese |
>14y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081167 |
- |
- |
- |
- |
- |
- |
white |
>41y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081168 |
- |
- |
- |
- |
- |
- |
white |
>33y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081169 |
- |
- |
- |
- |
- |
- |
white |
>34y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081170 |
- |
- |
- |
- |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081171 |
- |
- |
- |
M |
- |
- |
Chinese |
>30y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081173 |
- |
- |
- |
F |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081175 |
- |
- |
- |
- |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081176 |
- |
- |
- |
- |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081177 |
- |
- |
- |
- |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081178 |
- |
- |
- |
F |
- |
- |
Korean |
>56y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081179 |
- |
- |
- |
F |
- |
- |
Chinese |
>47y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081180 |
- |
- |
- |
- |
- |
- |
Chinese |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081181 |
- |
- |
- |
F |
- |
- |
Chinese |
>35y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081182 |
- |
- |
- |
M |
- |
- |
- |
>43y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081183 |
- |
- |
- |
- |
- |
- |
Korean |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081185 |
- |
- |
- |
- |
- |
- |
Korean |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081187 |
- |
- |
- |
- |
- |
- |
- |
>61y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081189 |
- |
- |
- |
F |
- |
- |
Chinese |
>39y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081191 |
- |
- |
- |
F |
- |
- |
Chinese |
>51y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081193 |
- |
- |
- |
M |
- |
- |
Chinese |
>33y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081195 |
- |
- |
- |
F |
- |
- |
Chinese |
>43y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081197 |
- |
- |
- |
F |
- |
- |
Chinese |
>39y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081199 |
- |
- |
- |
M |
- |
- |
Chinese |
>48y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081200 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081201 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081203 |
- |
- |
- |
M |
- |
- |
Chinese |
>26y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081205 |
- |
- |
- |
M |
- |
- |
Chinese |
>40y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081207 |
- |
- |
- |
M |
- |
- |
Chinese |
>41y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081208 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081209 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081210 |
- |
- |
- |
F |
- |
- |
white |
>48y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081211 |
- |
- |
- |
- |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081214 |
- |
- |
- |
F |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00081215 |
- |
- |
- |
F |
- |
- |
white |
>56y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081217 |
- |
- |
- |
F |
- |
- |
white |
>54y |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
2 |
1 |
James Hejtmancik |
00081219 |
- |
- |
- |
- |
- |
- |
white |
- |
- |
no |
none |
BCD |
affected with Bietti corneoretina dystrophy |
CYP4V2 |
CYP4V2 |
1 |
1 |
James Hejtmancik |
00089069 |
- |
PubMed: Li 2004, Journal: Li 2004 |
3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents |
F |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
2 |
3 |
Johan den Dunnen |
00089070 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089071 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089072 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089073 |
- |
PubMed: Li 2004, Journal: Li 2004 |
2-generation family, 1 affected (F), unaffected heterozygous carrier parents |
F |
yes |
- |
Japanese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089074 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089075 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089076 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089077 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089078 |
- |
PubMed: Li 2004, Journal: Li 2004 |
2-generation family, affected sister/brother, unaffected heterozygous carrier parents |
F;M |
- |
- |
European |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
2 |
Johan den Dunnen |
00089079 |
- |
PubMed: Li 2004, Journal: Li 2004 |
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents |
F |
- |
- |
European |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
2 |
2 |
Johan den Dunnen |
00089080 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
Johan den Dunnen |
00089081 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089082 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
European |
- |
- |
- |
- |
BCD |
lipid inclusions in lymphocytes |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089083 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089084 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
Johan den Dunnen |
00089085 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
Johan den Dunnen |
00089086 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089087 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089088 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
European |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
Johan den Dunnen |
00089089 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
1 |
1 |
Johan den Dunnen |
00089090 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
Johan den Dunnen |
00089091 |
- |
PubMed: Li 2004, Journal: Li 2004 |
- |
- |
- |
- |
European |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
Johan den Dunnen |
00245312 |
- |
3078127 |
eyeGENE participant |
M |
- |
United States |
- |
- |
- |
- |
- |
BCD |
- |
CHM |
CHM |
1 |
1 |
Kerry Goetz |
00245318 |
- |
1569506 |
eyeGENE participant |
M |
- |
United States |
- |
- |
- |
- |
- |
BCD |
- |
CHM |
CHM |
1 |
1 |
Kerry Goetz |
00245321 |
- |
- |
eyeGENE participant |
F |
- |
United States |
- |
- |
- |
- |
- |
BCD |
- |
CHM |
CHM |
1 |
1 |
Kerry Goetz |
00379672 |
IR_GH_0061 |
- |
- |
F |
- |
Korea, South (Republic) |
- |
- |
- |
- |
- |
BCD |
HP:0001141, HP:0000662, HP:0000613, HP:0001133, HP:0000007, HP:0000510 |
- |
CYP4V2 |
2 |
1 |
Jinu Han |
00379782 |
IR_GS_0144 |
- |
- |
F |
- |
Korea, South (Republic) |
- |
- |
- |
- |
- |
BCD |
HP:0032037, HP:0001133, HP:0000510 |
- |
CYP4V2 |
2 |
1 |
Jinu Han |
00409303 |
252 |
PubMed: Lin 2005 |
- |
M |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 1.0,0.6, electroretinogram amplitudes (uV) right, left eye: 120,not determined; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409304 |
259 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.5,1.0,, electroretinogram amplitudes (uV) right, left eye: not determined,27; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409305 |
260 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.7,0.9, electroretinogram amplitudes (uV) right, left eye: 207,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409306 |
265 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.2,1.5, electroretinogram amplitudes (uV) right, left eye: 274,296; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409307 |
272 |
PubMed: Lin 2005 |
- |
M |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.9,0.7, electroretinogram amplitudes (uV) right, left eye: 385,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409308 |
303 |
PubMed: Lin 2005 |
- |
M |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.5,0.5, electroretinogram amplitudes (uV) right, left eye: 311,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409309 |
312 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 1.2,1.2, electroretinogram amplitudes (uV) right, left eye: 312,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409310 |
270 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Japanese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 1.0,1.2, electroretinogram amplitudes (uV) right, left eye: 296,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409311 |
288-001 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Chinese |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.5,0.6, electroretinogram amplitudes (uV) right, left eye: 329,323; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
2 |
1 |
LOVD |
00409312 |
288-002 |
PubMed: Lin 2005 |
- |
F |
- |
- |
Middle Eastern |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.4,0.2, electroretinogram amplitudes (uV) right, left eye: 229,206; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409313 |
288-003 |
PubMed: Lin 2005 |
- |
M |
- |
- |
Middle Eastern |
- |
- |
- |
- |
BCD |
best corrected visual acuity right, left eye: 0.8,0.05, electroretinogram amplitudes (uV) right, left eye: 71,29; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409316 |
27001-IV:3 |
PubMed: Shan 2005 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |
00409317 |
27002-II:2 |
PubMed: Shan 2005 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
LOVD |
00409318 |
27003-II:1 |
PubMed: Shan 2005 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
2 |
1 |
LOVD |
00409319 |
27004 |
PubMed: Shan 2005 |
- |
F |
- |
China |
- |
- |
- |
- |
- |
BCD |
- |
CYP4V2 |
CYP4V2 |
1 |
1 |
LOVD |