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
|
00263166 |
12 (mother of 10) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263167 |
14 (father of 13) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263168 |
18 (mother of 16) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
2 |
1 |
LOVD |
00263169 |
19 |
- |
patient |
? |
no |
- |
- |
>23y |
- |
- |
- |
TAR |
delivery 40w; platelet count (x 109/L) lowest 26 , highest 133; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263170 |
20 |
- |
patient |
? |
no |
- |
- |
>23y |
- |
- |
- |
TAR |
delivery 40w, birth weight 2750g; platelet count (x 109/L) lowest 10 , highest 110; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263171 |
21 |
- |
patient |
? |
no |
- |
- |
>26y |
- |
- |
- |
TAR |
delivery 40w; platelet count (x 109/L) lowest 20 , highest 53; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263172 |
22 |
- |
patient |
? |
no |
- |
- |
>27y |
- |
- |
- |
TAR |
delivery 40w; platelet count (x 109/L) lowest 10 , highest 40; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance |
2 |
1 |
LOVD |
00263173 |
23 |
- |
2-generation family, 1 affected |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263174 |
25 (parent of 23) |
- |
2-generation family, parent patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263175 |
33 |
- |
2-generation family, 1 affected |
? |
no |
- |
- |
>29y |
- |
- |
- |
TAR |
delivery 41w, birth weight 3110g; platelet count (x 109/L) lowest 13 , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance |
2 |
1 |
LOVD |
00263176 |
32 (parent of 33) |
- |
2-generation family, parent patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263177 |
40 |
- |
2-generation family, 2 affecteds |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263178 |
41 |
- |
2-generation family, 2 affecteds |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263179 |
39 (parent 2 of 40 and 41) |
- |
2-generation family, parent 2 patients |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263180 |
49 (father of 47) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263181 |
52 (father of 50) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263182 |
54 (mother of 53) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263183 |
58 (father of 56) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263184 |
61 (father of 59) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263185 |
67 (father of 65) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263186 |
87 (father of 85) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263187 |
90 (mother of 85) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263188 |
88 |
- |
patient |
F |
no |
- |
- |
>4y |
- |
- |
- |
TAR |
birth weight 2720g; platelet count (x 109/L) lowest ? , highest 34; upper limb radii absent or hypoplastic; no lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263189 |
94 (father of 92) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263190 |
97 (father of 95) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263191 |
98 |
- |
patient |
F |
no |
- |
- |
>4y |
- |
- |
- |
TAR |
delivery 40w, birth weight 2910g; platelet count (x 109/L) lowest 7 , highest 295; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance |
2 |
1 |
LOVD |
00263192 |
113 |
- |
patient |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263193 |
117 (father of 116) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263194 |
122 |
- |
patient |
M |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263195 |
124 |
- |
patient |
F |
no |
- |
- |
>22y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance |
2 |
1 |
LOVD |
00263196 |
127 (mother of 125 |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263197 |
133 (father of 132) |
- |
2-generation family, father mother patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263198 |
139 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>17y |
- |
- |
- |
TAR |
delivery 42w, birth weight 3459g; platelet count (x 109/L) lowest 20 , highest 55; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? |
2 |
1 |
LOVD |
00263199 |
138 (parent of 138) |
- |
2-generation family, parent patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263200 |
143 (mother of 142) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263201 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
2 |
1 |
LOVD |
00263202 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
7 |
LOVD |
00263203 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
431 |
LOVD |
00263204 |
106 (mother of 1) father? |
- |
2-generation family, father patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263205 |
110 (father of 2) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263206 |
107 (mother of 4) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263207 |
111 (mother of 5) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263208 |
81 (mother of 6) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263209 |
90 (mother of 7) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263210 |
99 (mother of 8) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263211 |
100 (father of 8) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263212 |
15 (mother of 13) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263213 |
17 (father of 16) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263214 |
38 (parent 1 of 40 and 41) |
- |
2-generation family, parent 2 patients |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263215 |
43 (mother of 42) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263216 |
48 (mother of 47) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263217 |
51 (mother of 50) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263218 |
55 (father of 53) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263219 |
64 |
- |
patient |
M |
no |
- |
- |
>23y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest 94 , highest 155; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263220 |
66 (mother of 65) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263221 |
69 (mother of 68) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263222 |
72 (mother of 70 and 71) |
- |
2-generation family, mother 2 patients |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263223 |
75 (mother of 74) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263224 |
77 (mother of 76) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263225 |
89 |
- |
patient |
M |
no |
- |
- |
>8y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest 88; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263226 |
96 (mother of 95) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263227 |
102 (mother of 101) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263228 |
114 |
- |
2-generation family, 1 affected |
? |
no |
- |
- |
>8y |
- |
- |
- |
TAR |
delivery 42w, birth weight 2960g; platelet count (x 109/L) lowest ? , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263229 |
118 (mother of 116) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263230 |
145 (mother of 121) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
1 |
1 |
LOVD |
00263231 |
123 |
- |
patient |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263232 |
126 (father of 125) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263233 |
128 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>8y |
- |
- |
- |
TAR |
delivery 41w, birth weight 3544g; platelet count (x 109/L) lowest 11 , highest 178; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance |
2 |
1 |
LOVD |
00263234 |
144 (father of 142) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263235 |
103 (mother of 3) |
- |
2-generation family, mother patient |
F |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263236 |
108 (father of 4) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263237 |
112 (father of 5) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263238 |
82 (father of 6) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263239 |
91 (father of 7) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263240 |
11 (father of 10) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263242 |
31(parent of 33) |
- |
2-generation family, parent patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263243 |
44 (father of 42) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263246 |
73 (father of 70 and 71) |
- |
2-generation family, father 2 patients |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263247 |
78 (father of 76) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263251 |
131 (parent of 114) |
- |
2-generation family, parent patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263253 |
129 (parent of 128) |
- |
2-generation family, parent patient |
? |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263255 |
- |
- |
- |
- |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
62 |
LOVD |
00263258 |
104 (father of 3) |
- |
2-generation family, father patient |
M |
no |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
LOVD |
00263259 |
140 |
- |
patient |
F |
no |
- |
- |
>9y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality; cow milk intolerance |
2 |
1 |
LOVD |
00263260 |
13 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>5y |
- |
- |
- |
TAR |
delivery 40w, birth weight 2670g; platelet count (x 109/L) lowest 37 , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263261 |
16 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>15y |
- |
- |
- |
TAR |
delivery 40w, birth weight 3150g; platelet count (x 109/L) lowest 29 , highest 64; upper limb absence of radius, ulna and humerus, hypoplasia of scapula; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance |
2 |
1 |
LOVD |
00263262 |
47 |
- |
2-generation family, 1 affected |
M |
no |
- |
- |
>4m |
- |
- |
- |
TAR |
delivery 40w, birth weight 3450g; platelet count (x 109/L) lowest 30 , highest 233; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263263 |
50 |
- |
2-generation family, 1 affected |
M |
no |
- |
- |
>26y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest 163; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263264 |
53 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>1y |
- |
- |
- |
TAR |
birth weight 2610g; platelet count (x 109/L) lowest 10 , highest 28; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263265 |
56 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>34y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263266 |
59 |
- |
2-generation family, 1 affected |
M |
no |
- |
- |
>26y |
- |
- |
- |
TAR |
birth weight 2600g; platelet count (x 109/L) lowest 10 , highest 200; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263267 |
65 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>34y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest 79 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263268 |
83 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>37y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest 74 , highest 136; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263269 |
85 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>17d |
- |
- |
- |
TAR |
delivery 37w, birth weight 2800g; platelet count (x 109/L) lowest ? , highest 167; upper limb radii absent or hypoplasticnocardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263270 |
92 |
- |
2-generation family, 1 affected |
M |
no |
- |
- |
>1y6m |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest 7 , highest 65; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263271 |
95 |
- |
2-generation family, 1 affected |
M |
no |
- |
- |
>6y |
- |
- |
- |
TAR |
delivery 39w, birth weight 2900g; platelet count (x 109/L) lowest 18 , highest 180; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality; cow milk intolerance? |
2 |
1 |
LOVD |
00263272 |
101 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>17y |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest 31 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263273 |
116 |
- |
2-generation family, 1 affected |
F |
no |
- |
- |
>8y |
- |
- |
- |
TAR |
delivery 40w, birth weight 3062g; platelet count (x 109/L) lowest 12 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance |
2 |
1 |
LOVD |
00263274 |
125 |
- |
2-generation family, 1 affected |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |
00263275 |
134 |
- |
2-generation family, 1 affected |
? |
no |
- |
- |
- |
- |
- |
- |
TAR |
platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? |
2 |
1 |
LOVD |