All individuals with variants in gene RPL5

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.

134 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00210727	30503522-PatDBA001	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210734	30503522-PatDBA008	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210743	30503522-PatDBA017	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210753	30503522-PatDBA027	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210756	30503522-PatDBA030	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210763	30503522-PatDBA037	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210774	30503522-PatDBA048	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210791	30503522-PatDBA065	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210793	30503522-PatDBA067	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210794	30503522-PatDBA068	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210798	30503522-PatDBA072	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210802	30503522-PatDBA076	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210803	30503522-PatDBA077	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210806	30503522-PatDBA080	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210829	30503522-PatDBA103	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210832	30503522-PatDBA106	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210834	30503522-PatDBA108	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210837	30503522-PatDBA111	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210840	30503522-PatDBA114	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210841	30503522-PatDBA115	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210842	30503522-PatDBA116	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210844	30503522-PatDBA118	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210845	30503522-PatDBA119	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210850	30503522-PatDBA124	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210852	30503522-PatDBA126	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210858	30503522-PatDBA132	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210859	30503522-PatDBA133	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
00210868	30503522-PatDBA142	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210869	30503522-PatDBA143	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210882	30503522-PatDBA156	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210884	30503522-PatDBA158	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210886	30503522-PatDBA160	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210892	30503522-PatDBA166	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210919	30503522-PatDBA193	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210921	30503522-PatDBA195	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210923	30503522-PatDBA197	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210927	30503522-PatDBA201	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210944	30503522-PatDBA218	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210949	30503522-PatDBA223	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210950	30503522-PatDBA224	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210957	30503522-PatDBA231	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210961	30503522-PatDBA235	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210964	30503522-PatDBA238	PubMed: Ulirsch 2018	DBA case, uunaffected parents	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210974	30503522-PatDBA248	PubMed: Ulirsch 2018	DBA case, uunaffected parents	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210982	30503522-PatDBA256	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210985	30503522-PatDBA259	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210989	30503522-PatDBA263	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210990	30503522-PatDBA264	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210991	30503522-PatDBA265	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210996	30503522-PatDBA270	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211005	30503522-PatDBA279	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211008	30503522-PatDBA282	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211034	30503522-PatDBA308	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00211041	30503522-PatDBA315	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211049	30503522-PatDBA323	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211051	30503522-PatDBA325	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211060	30503522-PatDBA334	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211084	30503522-PatDBA358	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211114	30503522-DBAputdel21	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211115	30503522-DBAputdel22	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211116	30503522-DBAputdel23	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211117	30503522-DBAputdel24	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211118	30503522-DBAputdel25	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00219178	-	-	-	M	-	-	-	-	-	-	-	?	HP:0004322 (Short stature)	1	1	IMGAG
00305962	-	-	-	F	-	-	-	-	-	-	-	?	Cardiomyopathy (HP:0001638); Cerebral atrophy (HP:0002059)	1	1	IMGAG
00306195	93	-	-	M	-	China	-	-	-	-	-	DBA6	-	1	1	Sha Hong
00362286	patient	PubMed: Quarello 2010	-	-	-	Italy	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362342	Pl5_1	PubMed: Boria 2010	-	F	-	-	-	-	-	-	-	DBA	triphalangeal thumb	1	1	Johan den Dunnen
00362343	Pl5_2	PubMed: Boria 2010	family, affected father/daughter	F	-	-	-	-	-	-	-	DBA	duplicated ureter; growth retardation; responsive to steroid treatment	1	2	Johan den Dunnen
00362344	Pl5_2father	PubMed: Boria 2010	father	M	-	-	-	-	-	-	-	DBA	heart murmur; growth retardation; responsive to steroid treatment	1	1	Johan den Dunnen
00362345	Pl5_3	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	cleft palate, abnormal right thumb; growth retardation; responsive to steroid treatment	1	1	Johan den Dunnen
00362346	Pl5_4	PubMed: Boria 2010	-	F	-	-	-	-	-	-	-	DBA	triphalangeal thumb	1	1	Johan den Dunnen
00362347	Pl5_6	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	cleft lip and palate, triphalangeal thumb, short stature	1	1	Johan den Dunnen
00362348	Pl5_7	PubMed: Boria 2010	-	F	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362349	Pl5_8	PubMed: Boria 2010	-	F	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362350	Pl5_9	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362351	Pl5_10	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	dysmorphic face, ventricular septal defect, cleft soft palate, triphalangeal thumbs, reflux of the left ureter; growth retardation; responsive to steroid treatment	1	1	Johan den Dunnen
00362352	Pl5_11	PubMed: Boria 2010	-	M	-	-	-	-	-	-	-	DBA	cleft lip, abnormality of bilateral second toe, aortic valve defect; growth retardation; unresponsive to steroid treatment	1	1	Johan den Dunnen
00362353	Pl5_12	PubMed: Boria 2010	-	F	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362358	Pat1	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier mother	F	-	-	-	-	-	-	-	DBA	responsive to high doses only; red blood cell transfusion	1	1	Johan den Dunnen
00362359	Pat2	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DBA	cleft lip, cleft palate; responsive to steroid therapy; red blood cell transfusion	1	1	Johan den Dunnen
00362360	Pat3	PubMed: Gazda 2008	-	F	-	-	-	-	-	-	-	DBA	cleft palate, atrial septal defect, hypoplastic thumb, micrognathia, tracheomalacia; initially responsive to steroid therapy; stem cell transplant	1	1	Johan den Dunnen
00362361	Pat4	PubMed: Gazda 2008	2-generation family, 1 affected, carrier father	M	-	-	-	-	-	-	-	DBA	no malformations; unresponsive to steroid therapy; red blood cell transfusion	1	2	Johan den Dunnen
00362362	Pat4father	PubMed: Gazda 2008	father	-	-	-	-	-	-	-	-	DBA	no anemia	1	1	Johan den Dunnen
00362363	Pat5	PubMed: Gazda 2008	-	M	-	-	-	-	-	-	-	DBA	micrognathia, hypertelorism, soft cleft palate, triphalangeal right thumb, widened webbed spaced between first and second toes, hypospadias	1	1	Johan den Dunnen
00362364	Pat6	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DBA	small jaw, cleft palate, triphlangeal thumb, hip dysplasia, rib anomalies; responsive to steroid therapy	1	1	Johan den Dunnen
00362365	Pat7	PubMed: Gazda 2008	-	M	-	-	-	-	-	-	-	DBA	partial anomalous pulmonary venous return; unresponsive to steroid therapy; red blood cell transfusion	1	1	Johan den Dunnen
00362366	Pat8	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents/relatives	M	-	-	-	-	-	-	-	DBA	multiple congenital heart defectsa; responsive to steroid therapy; red blood cell transfusion	1	1	Johan den Dunnen
00362367	Pat9	PubMed: Gazda 2008	-	M	-	-	-	-	-	-	-	DBA	long proximal thumb phalanges bilateral, multiple congenital heart defects	1	1	Johan den Dunnen
00362368	Pat10	PubMed: Gazda 2008	-	M	-	-	-	-	-	-	-	DBA	small jaw, cleft palate, bronchiopharyngeal malacia, mild hydrocephalus; responsive to steroid therapy	1	1	Johan den Dunnen
00362369	Pat11	PubMed: Gazda 2008	2-generation family, 1 affected, unaffected non-carrier parents/relatives	F	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00362370	Pat12	PubMed: Gazda 2008	2-generation family, 1 affected, carrier mother	F	-	-	-	-	-	-	-	DBA	cleft soft palate; unresponsive to steroid therapy; red blood cell transfusion	1	2	Johan den Dunnen
00362371	Pat12mother	PubMed: Gazda 2008	mother	F	-	-	-	-	-	-	-	DBA	no malformations; refused steroid trial; red blood cell transfusion	1	1	Johan den Dunnen
00362372	Pat13	PubMed: Gazda 2008	2-generation family, 1 affected, carrier mother	F	-	-	-	-	-	-	-	DBA	cleft palate, bifid uvula, hypoplastic thumb; red blood cell transfusion	1	2	Johan den Dunnen
00362373	Pat13mother	PubMed: Gazda 2008	mother	F	-	-	-	-	-	-	-	DBA	no malformations; red blood cell transfusion	1	1	Johan den Dunnen
00362374	Pat14	PubMed: Gazda 2008	2-generation family, 1 affected, carrier mother/sister	F	-	-	-	-	-	-	-	DBA	mandibular hypoplasia with retrognathia, cleft palate with bifid uvula, dysplastic thumbs, atrial septal defect type II; unresponsive to steroid therapy; red blood cell transfusion	1	3	Johan den Dunnen
00362375	Pat14sister	PubMed: Gazda 2008	sister	F	-	-	-	-	-	-	-	DBA	mandibular hypoplasia with retrognathia, cleft palate, triphalangeal thumbs, persistent foramen ovale, atrial septal defect type II	1	1	Johan den Dunnen
00362376	Pat14mother	PubMed: Gazda 2008	mother	F	-	-	-	-	-	-	-	DBA	no malformations	1	1	Johan den Dunnen
00362377	Pat15	PubMed: Gazda 2008	2-generation family, 1 affected, carrier brother/daughter	M	-	-	-	-	-	-	-	DBA	triphalangeal thumbs, ventricular septal defect; responsive to steroid therapy	1	3	Johan den Dunnen

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Global Variome shared LOVD

RPL5 (ribosomal protein L5)