All individuals with variants in gene RPL11

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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

75 entries on 1 page. Showing entries 1 - 75.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00104034	Vogelaar-755A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00210735	30503522-PatDBA009	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210736	30503522-PatDBA010	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210745	30503522-PatDBA019	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210757	30503522-PatDBA031	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210762	30503522-PatDBA036	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210764	30503522-PatDBA038	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210767	30503522-PatDBA041	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210779	30503522-PatDBA053	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210790	30503522-PatDBA064	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210796	30503522-PatDBA070	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210811	30503522-PatDBA085	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210819	30503522-PatDBA093	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210847	30503522-PatDBA121	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210853	30503522-PatDBA127	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210860	30503522-PatDBA134	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210866	30503522-PatDBA140	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210867	30503522-PatDBA141	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210904	30503522-PatDBA178	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210905	30503522-PatDBA179	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210978	30503522-PatDBA252	PubMed: Ulirsch 2018	DBA case, uunaffected parents	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210979	30503522-PatDBA253	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210981	30503522-PatDBA255	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211000	30503522-PatDBA274	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211017	30503522-PatDBA291	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211032	30503522-PatDBA306	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211038	30503522-PatDBA312	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211055	30503522-PatDBA329	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211058	30503522-PatDBA332	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211065	30503522-PatDBA339	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211087	30503522-PatDBA361	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211088	30503522-PatDBA362	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211089	30503522-PatDBA363	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211090	30503522-PatDBA364	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211094	30503522-DBAputdel1	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211095	30503522-DBAputdel2	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211096	30503522-DBAputdel3	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211097	30503522-DBAputdel4	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362354	Pl11_1	PubMed: Boria 2010	-	F	-	-	-	-	-	-	-	DBA	ventricular septal defect, atrial septal defect, abnormal thumbs; no growth retardation;	1	1	Johan den Dunnen
00362355	Pl11_2	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	no malformation; no growth retardation; responsive to steroid treatment	1	1	Johan den Dunnen
00362356	Pl11_3	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	no malformation; growth retardation; responsive to steroid treatment	1	1	Johan den Dunnen
00362383	Pat19	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DBA	triphalangeal thumbs; responsive to steroid therapy	1	3	Johan den Dunnen
00362384	Pat20	PubMed: Gazda 2008	2-generation family, 1 affected, carrier mother/grandmother	F	-	-	-	-	-	-	-	DBA	ventricular septal defect, narrow pulmonary artery; responsive to steroid therapy; red blood cell transfusion	1	1	Johan den Dunnen
00362385	Pat20mother	PubMed: Gazda 2008	mother	F	-	-	-	-	-	-	-	DBA	triphalangeal thumb; red blood cell transfusion	1	1	Johan den Dunnen
00362386	Pat20grandmother	PubMed: Gazda 2008	grandmother	F	-	-	-	-	-	-	-	DBA	triphalangeal thumb	1	1	Johan den Dunnen
00362387	Pat21	PubMed: Gazda 2008	-	F	-	-	-	-	-	-	-	DBA	no malformations; responsive to steroid therapy	1	1	Johan den Dunnen
00362388	Pat22	PubMed: Gazda 2008	-	M	-	-	-	-	-	-	-	DBA	abnormal thumbs; responsive to steroid therapy; red blood cell transfusion	1	1	Johan den Dunnen
00362389	Pat23	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DBA	short neck; unresponsive to steroid therapy; stem cell transplant	1	1	Johan den Dunnen
00362390	Pat24	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DBA	horseshoe kidney; responsive to steroid therapy	1	1	Johan den Dunnen
00362391	Pat25	PubMed: Gazda 2008	2-generation family, 1 affected, carrier son	M	-	-	-	-	-	-	-	DBA	no malformations; responsive to steroid therapy	1	2	Johan den Dunnen
00362392	Pat25son	PubMed: Gazda 2008	son	M	-	-	-	-	-	-	-	DBA	small extra thumbs	1	1	Johan den Dunnen
00362393	Pat26	PubMed: Gazda 2008	2-generation family, 1 affected, carrier mother	F	-	-	-	-	-	-	-	DBA	no malformations; responsive to high doses; red blood cell transfusion	1	2	Johan den Dunnen
00362394	Pat26mother	PubMed: Gazda 2008	mother	F	-	-	-	-	-	-	-	DBA	no malformations	1	1	Johan den Dunnen
00362395	Pat27	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DBA	no malformations; unresponsive to steroid therapy; red blood cell transfusion	1	1	Johan den Dunnen
00362396	Pat28	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents/relatives	M	-	-	-	-	-	-	-	DBA	flat thenar muscle, small jaw; responsive to steroid therapy	1	1	Johan den Dunnen
00362397	Pat29	PubMed: Gazda 2008	-	M	-	-	-	-	-	-	-	DBA	Tetralogy of Fallot, bilateral grade 3 vesicoureteral reflex; responsive to steroid therapy	1	1	Johan den Dunnen
00362398	Pat30	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents/relatives	F	-	-	-	-	-	-	-	DBA	hypoplastic thumb, flat thenar muscle; responsive/ stopped due to growth retardation; red blood cell transfusion	1	1	Johan den Dunnen
00362399	Pat31	PubMed: Gazda 2008	2-generation family, 1 affected, carrier mother	M	-	-	-	-	-	-	-	DBA	small extra thumbs, Tetralogy of Fallot; responsive to steroid therapy	1	2	Johan den Dunnen
00362400	Pat31mother	PubMed: Gazda 2008	mother	F	-	-	-	-	-	-	-	DBA	left thumb: additional short phalanx; red blood cell transfusion (2x/y)	1	1	Johan den Dunnen
00362562	CZUH09	PubMed: Cmejla 2009	-	F	-	Czech Republic	-	-	-	-	-	DBA	small for gestational age; flat thenar; atypical thumb	1	1	Johan den Dunnen
00362563	CZUH37	PubMed: Cmejla 2009	-	F	-	Czech Republic	-	-	-	-	-	DBA	small for gestational age; flat thenar; bifid thumb	1	1	Johan den Dunnen
00362576	RPL11-Pat1	PubMed: Quarello 2010	-	F	-	Italy	-	-	-	-	-	DBA	cleft palate, flat thenar eminence	1	1	Johan den Dunnen
00362577	RPL11-Pat2	PubMed: Quarello 2010	2-generation family, affected mother/daughter	F	-	Italy	-	-	-	-	-	DBA	short stature	1	2	Johan den Dunnen
00362578	RPL11-Pat3	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier parents/relatives	M	-	Italy	-	-	-	-	-	DBA	hypospadias, renal ectopy, café au lait spots	1	1	Johan den Dunnen
00362579	RPL11-Pat4	PubMed: Quarello 2010	-	M	-	Italy	-	-	-	-	-	DBA	no malformations	1	1	Johan den Dunnen
00362580	RPL11-Pat5	PubMed: Quarello 2010	-	F	-	Italy	-	-	-	-	-	DBA	hypoplastic thumb, ventricular septal defect	1	1	Johan den Dunnen
00362581	RPL11-Pat6	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier parents/relatives	F	-	Italy	-	-	-	-	-	DBA	bilateral triphalangeal thumbs, persistent foramen ovale	1	1	Johan den Dunnen
00362582	RPL11-Pat7	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier mother	F	-	Italy	-	-	-	-	-	DBA	Cathie's facies, flat thenar eminence, short stature	1	1	Johan den Dunnen
00362583	RPL11-Pat8	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier parents/relatives	F	-	Italy	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362584	RPL11-Pat9	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Italy	-	-	-	-	-	DBA	flat thenar eminence, tetralogy of Fallot, short stature	1	1	Johan den Dunnen
00362585	RPL11-Pat10	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Italy	-	-	-	-	-	DBA	septal atrial defect, flat thenar eminence, short staure	1	1	Johan den Dunnen
00362586	RPL11-Pat11	PubMed: Quarello 2010	2-generation family, 1 affected, unaffected non-carrier parents/relatives	M	-	Italy	-	-	-	-	-	DBA	bilateral triphalangeal thumbs, cleft palate, micrognathia, short staure	1	1	Johan den Dunnen
00362587	RPL11-Pat12	PubMed: Quarello 2010	2-generation family, affected father/daughter	F	-	Italy	-	-	-	-	-	DBA	short stature	1	2	Johan den Dunnen
00362811	Pat9	PubMed: Konno 2010	-	F	-	Japan	-	-	-	-	-	DBA	see paper; ...	1	1	Johan den Dunnen
00362812	Pat23	PubMed: Konno 2010	-	M	-	Japan	-	-	-	-	-	DBA	see paper; ...	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

RPL11 (ribosomal protein L11)