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
|
00000166 |
- |
PubMed: Tarpey 2009 |
208 families with X-linked mental retardation |
M |
- |
? (unknown) |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
for details contact Lucy Raymond |
HSD17B10, OFD1 |
HSD17B10, OFD1 |
3 |
208 |
Johan den Dunnen |
00000406 |
- |
PubMed: Cacciagli 2014 |
5-generation family, 4 affecteds, 3 unaffected carrier females |
M |
no |
United States |
Dutch |
- |
- |
- |
- |
MRX;IDX |
see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures |
AP1S2 |
AP1S2 |
1 |
4 |
Laurent Villard |
00002444 |
19377101-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
BCOR |
BCOR |
1 |
1 |
Lucy Raymond |
00002445 |
19377102-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
BCOR |
BCOR |
1 |
167 |
Lucy Raymond |
00002446 |
19377103-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
BCOR |
BCOR |
1 |
1 |
Lucy Raymond |
00002447 |
19377104-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
BCOR |
BCOR |
1 |
14 |
Lucy Raymond |
00002448 |
19377105-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
BCOR |
BCOR |
1 |
1 |
Lucy Raymond |
00002449 |
19377106-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
BCOR |
BCOR |
1 |
1 |
Lucy Raymond |
00003120 |
- |
PubMed: Raynaud 2000 |
family MRX74, 3-generation family, 6 affecteds and 4 healthy carrier females |
M |
no |
France |
- |
- |
- |
- |
- |
MRX;IDX |
- |
EFHC2 |
EFHC2 |
1 |
10 |
Johan den Dunnen |
00003121 |
19377107-Pat? |
PubMed: Tarpey 2009 |
only summary data are given - |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
EFHC2 |
EFHC2 |
1 |
1 |
Lucy Raymond |
00003122 |
19377108-Pat? |
PubMed: Tarpey 2009 |
summary data are given - |
M |
no |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
EFHC2 |
EFHC2 |
1 |
1 |
Lucy Raymond |
00003123 |
19377109-Pat? |
PubMed: Tarpey 2009 |
only summary data are given - |
M |
no |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
EFHC2 |
EFHC2 |
1 |
12 |
Lucy Raymond |
00003124 |
19377110-Pat? |
PubMed: Tarpey 2009 |
only summary data are given - |
M |
no |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
EFHC2 |
EFHC2 |
1 |
15 |
Lucy Raymond |
00003125 |
19377111-Pat? |
PubMed: Tarpey 2009 |
only summary data are given - |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
EFNB1 |
EFNB1 |
1 |
1 |
Lucy Raymond |
00003126 |
19377112-Pat? |
PubMed: Tarpey 2009 |
only summary data are given - |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
EFNB1 |
EFNB1 |
1 |
1 |
Lucy Raymond |
00003177 |
- |
PubMed: Stromme 2002 |
family, 7 affected males |
M |
no |
Australia |
- |
- |
- |
- |
- |
MRX;IDX |
mental retardation |
ARX |
ARX |
1 |
7 |
Johan den Dunnen |
00003178 |
- |
PubMed: Stromme 2002 |
family, 4 affected males |
M |
no |
Australia |
- |
- |
- |
- |
- |
MRX;IDX |
mental retardation |
ARX |
ARX |
1 |
4 |
Johan den Dunnen |
00004306 |
19377113-Pat? |
PubMed: Tarpey 2009 |
- |
? |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
G6PD |
G6PD |
1 |
1 |
Lucy Raymond |
00004307 |
19377114-Pat? |
PubMed: Tarpey 2009 |
- |
? |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
G6PD |
G6PD |
1 |
1 |
Lucy Raymond |
00004308 |
19377115-Pat? |
PubMed: Tarpey 2009 |
- |
? |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
G6PD |
G6PD |
1 |
1 |
Lucy Raymond |
00016861 |
Pat21 |
PubMed: Tzschach 2015 |
2-generation family, 1 affected, heterozygous carrier mother/sister |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features |
PHF6 |
PHF6 |
1 |
1 |
Andreas Tzschach |
00016919 |
19377116-Pat? |
PubMed: Tarpey 2009 |
. |
M |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
USP9X |
USP9X |
1 |
4 |
Lucy Raymond |
00016920 |
19377117-Pat? |
PubMed: Tarpey 2009 |
. |
M |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
USP9X |
USP9X |
1 |
1 |
Lucy Raymond |
00016921 |
19377118-Pat? |
PubMed: Tarpey 2009 |
. |
M |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
USP9X |
USP9X |
1 |
1 |
Lucy Raymond |
00016923 |
19377119-Pat? |
PubMed: Tarpey 2009 |
. |
M |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
- |
- |
- |
1 |
Lucy Raymond |
00016924 |
- |
PubMed: Tarpey 2009 |
3-generation family, 3 affected males, 2 unaffected carrier females |
M |
no |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
USP9X |
USP9X |
1 |
1 |
Johan den Dunnen |
00016931 |
- |
PubMed: Tarpey 2004, Journal: Tarpey 2004 |
4-generation family, 5 affected males, 4 unaffected carrier females |
M |
no |
Australia |
- |
- |
- |
- |
- |
MRX;IDX |
see paper; {PMID:Turner 2003:12599187} |
AP1S2 |
AP1S2 |
1 |
5 |
Johan den Dunnen |
00016932 |
Fam1 |
PubMed: Tzschach 2015 |
family, 4 affected, unaffected heterozygous carriermother/grandmother |
M |
- |
Poland |
- |
- |
- |
- |
- |
MRX;IDX |
moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability |
AP1S2 |
AP1S2 |
1 |
4 |
Andreas Tzschach |
00016952 |
19377120-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
DLG3 |
DLG3 |
1 |
1 |
Lucy Raymond |
00016953 |
19377121-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
DLG3 |
DLG3 |
1 |
1 |
Lucy Raymond |
00016954 |
19377122-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
KDM5C |
KDM5C |
1 |
1 |
Lucy Raymond |
00016955 |
19377123-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
KDM5C |
KDM5C |
1 |
1 |
Lucy Raymond |
00016956 |
19377124-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
KDM5C |
KDM5C |
1 |
1 |
Lucy Raymond |
00016957 |
19377125-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
KDM5C |
KDM5C |
1 |
1 |
Lucy Raymond |
00016958 |
19377126-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
OPHN1 |
OPHN1 |
1 |
12 |
Lucy Raymond |
00016959 |
19377127-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
OPHN1 |
OPHN1 |
1 |
1 |
Lucy Raymond |
00016960 |
19377128-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
OPHN1 |
OPHN1 |
1 |
1 |
Lucy Raymond |
00016961 |
19377129-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
OPHN1 |
OPHN1 |
1 |
1 |
Lucy Raymond |
00016962 |
19377130-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC16A2 |
SLC16A2 |
1 |
1 |
Lucy Raymond |
00016963 |
19377131-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
UBE2A |
UBE2A |
1 |
1 |
Lucy Raymond |
00016964 |
19377132-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
UBE2A |
UBE2A |
1 |
1 |
Lucy Raymond |
00016965 |
19377133-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016966 |
19377134-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016967 |
19377135-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016968 |
19377136-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016969 |
19377137-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016970 |
19377138-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016971 |
19377139-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
CUL4B |
CUL4B |
1 |
1 |
Lucy Raymond |
00016972 |
19377140-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
UPF3B |
UPF3B |
1 |
1 |
Lucy Raymond |
00016973 |
19377141-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
UPF3B |
UPF3B |
1 |
1 |
Lucy Raymond |
00016974 |
19377142-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
UPF3B |
UPF3B |
1 |
1 |
Lucy Raymond |
00016975 |
19377143-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
UPF3B |
UPF3B |
1 |
1 |
Lucy Raymond |
00016976 |
19377144-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
ZDHHC9 |
ZDHHC9 |
1 |
1 |
Lucy Raymond |
00016977 |
19377145-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
ZDHHC9 |
ZDHHC9 |
1 |
1 |
Lucy Raymond |
00016978 |
19377146-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
ZDHHC9 |
ZDHHC9 |
1 |
1 |
Lucy Raymond |
00016979 |
- |
PubMed: Shoubridge 2010, Journal: Shoubridge 20105 |
5-generation family, 8 affected males, 7 unaffected heterozygous carrier females |
M |
no |
United States |
? |
- |
- |
- |
- |
MRX;IDX |
see paper; ... |
IQSEC2 |
IQSEC2 |
1 |
8 |
Johan den Dunnen |
00016980 |
- |
PubMed: Shoubridge 2010, Journal: Shoubridge 20105 |
5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems |
M |
no |
Australia |
8 |
- |
- |
- |
- |
MRX;IDX |
moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ... |
IQSEC2 |
IQSEC2 |
1 |
1 |
Johan den Dunnen |
00016981 |
- |
PubMed: Shoubridge 2010, Journal: Shoubridge 20105 |
5-generation family, 12 affected males, 8 unaffected heterozygous carrier females |
M |
no |
Australia |
- |
- |
- |
- |
- |
MRX;IDX |
all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia) |
IQSEC2 |
IQSEC2 |
1 |
12 |
Johan den Dunnen |
00016982 |
19377147-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
MED12 |
MED12 |
1 |
1 |
Lucy Raymond |
00016983 |
19377148-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
MED12 |
MED12 |
1 |
1 |
Lucy Raymond |
00016984 |
19377149-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
MED12 |
MED12 |
1 |
54 |
Lucy Raymond |
00016985 |
19377150-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
MED12 |
MED12 |
1 |
1 |
Lucy Raymond |
00016986 |
19377151-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
MED12 |
MED12 |
1 |
2 |
Lucy Raymond |
00016987 |
19377152-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Lucy Raymond |
00016988 |
19377153-Pat? |
PubMed: Gilfillan 2008, PubMed: Tarpey 2009 |
3-generation family, 2 affected males, 3 female carriers unaffected |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
2 |
Lucy Raymond |
00016989 |
19377154-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Lucy Raymond |
00016990 |
19377155-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
9 |
Lucy Raymond |
00016991 |
19377156-Pat? |
PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 |
family, 2 affected males |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
2 |
Lucy Raymond |
00016992 |
19377157-Pat? |
PubMed: Tarpey 2009 |
- |
? |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Lucy Raymond |
00016996 |
- |
- |
- |
? |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Birgit Neitzel |
00016997 |
- |
- |
- |
? |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Birgit Neitzel |
00016998 |
- |
- |
- |
? |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Birgit Neitzel |
00016999 |
- |
- |
- |
? |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Birgit Neitzel |
00017000 |
- |
- |
- |
? |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
1 |
Birgit Neitzel |
00017001 |
18342287-FamA |
PubMed: Gilfillan 2008 |
3-generation family, 3 affected males, 3 female carriers unaffected |
M |
- |
Norway |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
3 |
Johan den Dunnen |
00017002 |
18342287-FamC |
PubMed: Gilfillan 2008 |
3-generation family, 3 affected males, 1 female carrier unaffected |
M |
- |
United Kingdom (Great Britain) |
? |
- |
- |
- |
- |
MRX;IDX |
- |
SLC9A6 |
SLC9A6 |
1 |
3 |
Johan den Dunnen |
00017006 |
Fam5 |
PubMed: Tzschach 2015 |
2-generation family, affected boy and maternal uncle, unaffected heterozygous carrier mother/grandmother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
moderate intellectual disability, macrocephaly (OFC 60 cm, >97th centile), short stature (height 163 cm, <3rd centile), cryptorchidism, submucous cleft palate surgically corrected, bilateral partial optic atrophy without deleterious effects on vision; maternal uncle similar clinical problems, no cleft palate, no optic atrophy |
CUL4B |
CUL4B |
1 |
2 |
Andreas Tzschach |
00017007 |
Fam6 |
PubMed: Tzschach 2015 |
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
moderate intellectual disability, macrocephaly, obesity |
CUL4B |
CUL4B |
1 |
2 |
Andreas Tzschach |
00017008 |
Pat14 |
PubMed: Tzschach 2015 |
- |
M |
- |
Turkey |
? |
- |
- |
- |
- |
MRX;IDX |
intellectual disability, borderline short stature (height 142 cm, 3rd centile), borderline microcephaly (OFC 52 cm, 3rd-10th centile), normal weight (40 kg, 25th centile), body proportions gave impression central obesity; 12y-hearing loss; coarse face, small ears, broad nose, bulbous nasal tip, epicanthus, thick lips, everted lower lip, brachydactyly, bilateral 2/3 toe syndactyly, sandal gap |
CUL4B |
CUL4B |
1 |
1 |
Andreas Tzschach |
00017014 |
Fam7 |
PubMed: Tzschach 2015 |
2-generation family, 1 affected, unaffected non-carrier mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
severe non-syndromic intellectual disability |
IQSEC2 |
IQSEC2 |
1 |
1 |
Andreas Tzschach |
00017015 |
Pat19 |
PubMed: Tzschach 2015 |
- |
F |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
severe intellectual disability, epilepsy, borderline macrocephaly |
IQSEC2 |
IQSEC2 |
1 |
1 |
Andreas Tzschach |
00017016 |
Fam8 |
PubMed: Tzschach 2015 |
2-generation family, 2 affected brothers, unaffected carrier mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
severe intellectual disability, OFC 90th centile, short stature, strabismus; younger brothe short stature, moderate intellectual disability, OFC 10th centile, cryptorchidism |
KDM5C |
KDM5C |
1 |
2 |
Andreas Tzschach |
00017017 |
Fam10 |
PubMed: Tzschach 2015, (Maiwald in preparation |
2-generation family, 2 affected brothers/mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
brothers moderate intellectual disability, short stature, microcephaly; mother learning problems |
MED12 |
MED12 |
1 |
2 |
Andreas Tzschach |
00017018 |
Fam11 |
PubMed: Tzschach 2015 |
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney |
OPHN1 |
OPHN1 |
1 |
2 |
Andreas Tzschach |
00017019 |
Fam12 |
PubMed: Tzschach 2015 |
- |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
moderate intellectual disability, facial dysmorphism, hypertelorism, epicanthus; mothe mild intellectual disability, psychiatric problems; maternal uncle had severe intellectual disability |
UPF3B |
UPF3B |
1 |
1 |
Andreas Tzschach |
00017020 |
Fam13 |
PubMed: Tzschach 2015 |
family, 4 affected males |
M |
- |
Turkey |
? |
- |
- |
- |
- |
MRX;IDX |
moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4) |
ZDHHC9 |
ZDHHC9 |
1 |
4 |
Andreas Tzschach |
00017021 |
Pat15 |
PubMed: Tzschach 2015 |
2-generation family, 1 affected, unaffected heterozygous carrier mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal |
DLG3 |
DLG3 |
1 |
1 |
Andreas Tzschach |
00017022 |
Pat16 |
PubMed: Tzschach 2015 |
conceived after anonymous egg donation |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile) |
SLC9A6 |
SLC9A6 |
1 |
1 |
Andreas Tzschach |
00017023 |
Pat6;Pat18 |
PubMed: Czeschik 2013, PubMed: Tzschach 2015 |
2-generation family, 1 affected, unaffected non-carrier mother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
born at term, large body measurements, length, weight/OFC >97th centile, congenital heart disease, muscular hypotonia, feeding difficulties; first months seizures; psychomotor development severely retarded; MRI brain progressive brain atrophy |
UBE2A |
UBE2A |
1 |
1 |
Andreas Tzschach |
00017024 |
Pat20 |
PubMed: Tzschach 2015 |
family, 1 affected, unaffected heterozygous carrier mother/grandmother |
M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3 |
SLC16A2 |
SLC16A2 |
1 |
1 |
Andreas Tzschach |
00017030 |
Fam9 |
PubMed: Tzschach 2015 |
2-generation family, affected son/sister/mother |
F;M |
- |
? (unknown) |
? |
- |
- |
- |
- |
MRX;IDX |
moderate intellectual disability, 6y-seizures; sister mild intellectual disability, 47y-short stature (height 148 cm, <3rd centile), microcephaly (OFC 50.5 cm, <3rd centile), obese (weight 87 kg), strabismus, hyperopia, no seizures; mother learning problems, 66y-died |
KDM5C |
KDM5C |
1 |
3 |
Andreas Tzschach |
00017895 |
19377158-Pat? |
PubMed: Tarpey 2009 |
- |
M |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
IL1RAPL1 |
IL1RAPL1 |
1 |
1 |
Lucy Raymond |
00017896 |
19377159-Pat? |
PubMed: Tarpey 2009 |
- |
M |
? |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
MRX;IDX |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
IL1RAPL1 |
IL1RAPL1 |
1 |
1 |
Lucy Raymond |
00017898 |
- |
PubMed: Carrie 1999 |
2-generation family, 3 affected brothers |
M |
no |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
IL1RAPL1 |
IL1RAPL1 |
1 |
3 |
Johan den Dunnen |
00017899 |
- |
PubMed: Carrie 1999 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
IL1RAPL1 |
IL1RAPL1 |
1 |
1 |
Johan den Dunnen |
00024220 |
- |
PubMed: Wibley 2010 |
4-generation family, 7 affecteds, unafected carrier females |
M |
no |
- |
- |
- |
- |
- |
- |
MRX;IDX |
moderate ID, nonsyndromic |
CUL4B |
CUL4B |
1 |
7 |
Johan den Dunnen |
00024221 |
- |
PubMed: Wibley 2010 |
3-generation family, 3 affecteds, unaffected carrier females |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
PTCHD1 |
PTCHD1 |
1 |
3 |
Johan den Dunnen |
00024222 |
- |
PubMed: Wibley 2010 |
4-generation family, 3 affecteds, 2 carrier females |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
WDR13 |
WDR13 |
1 |
3 |
Johan den Dunnen |
00024223 |
- |
PubMed: Wibley 2010 |
2-generation family, 2 affecteds |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
degenerative eye disease |
FAAH2 |
FAAH2 |
1 |
2 |
Johan den Dunnen |
00024224 |
- |
PubMed: Wibley 2010 |
2-generation family, 2 affecteds, carrier mother |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
GSPT2 |
GSPT2 |
1 |
2 |
Johan den Dunnen |