All individuals with variants in gene RPS26

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.

65 entries on 1 page. Showing entries 1 - 65.

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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	3	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	3	1	Yu Sun
00210728	30503522-PatDBA002	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210729	30503522-PatDBA003	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210739	30503522-PatDBA013	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210744	30503522-PatDBA018	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210750	30503522-PatDBA024	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210759	30503522-PatDBA033	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210766	30503522-PatDBA040	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210768	30503522-PatDBA042	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210769	30503522-PatDBA043	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210777	30503522-PatDBA051	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210787	30503522-PatDBA061	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210795	30503522-PatDBA069	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210799	30503522-PatDBA073	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210801	30503522-PatDBA075	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210810	30503522-PatDBA084	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210814	30503522-PatDBA088	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210817	30503522-PatDBA091	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210820	30503522-PatDBA094	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210821	30503522-PatDBA095	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210851	30503522-PatDBA125	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210865	30503522-PatDBA139	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210889	30503522-PatDBA163	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210895	30503522-PatDBA169	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210896	30503522-PatDBA170	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210913	30503522-PatDBA187	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210914	30503522-PatDBA188	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00210920	30503522-PatDBA194	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210931	30503522-PatDBA205	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210935	30503522-PatDBA209	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210942	30503522-PatDBA216	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210945	30503522-PatDBA219	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210948	30503522-PatDBA222	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210951	30503522-PatDBA225	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210953	30503522-PatDBA227	PubMed: Ulirsch 2018	DBA case, uunaffected parents	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210966	30503522-PatDBA240	PubMed: Ulirsch 2018	DBA case, uunaffected parents	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00210998	30503522-PatDBA272	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211014	30503522-PatDBA288	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211026	30503522-PatDBA300	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00211027	30503522-PatDBA301	PubMed: Ulirsch 2018	DBA case with affected relative	-	-	-	-	-	-	-	-	DBA	-	1	2	Johan den Dunnen
00211045	30503522-PatDBA319	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211052	30503522-PatDBA326	PubMed: Ulirsch 2018	singleton DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211067	30503522-PatDBA341	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211068	30503522-PatDBA342	PubMed: Ulirsch 2018	DBA case	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211159	30503522-DBAputdel66	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211160	30503522-DBAputdel67	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211161	30503522-DBAputdel68	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211162	30503522-DBAputdel69	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00211163	30503522-DBAputdel70	PubMed: Ulirsch 2018	-	-	-	-	-	-	-	-	-	DBA	-	1	1	Johan den Dunnen
00219181	Pat6	2-generation family, 1 affected, unaffected non-carrier parents	PubMed: Doherty 2010	M	-	-	-	-	-	-	-	DBA	no malformation, unresponsive to steroid therapy, red blood cell transfusion	1	1	LOVD
00219182	Pat7	PubMed: Doherty 2010	2-generation family, affected father/daughter, father	M	-	-	-	-	-	-	-	DBA	no malformation, responsive to steroid therapy	1	2	LOVD
00219183	Pat7d	PubMed: Doherty 2010	daughter	F	-	-	-	-	-	-	-	DBA	no malformation, unresponsive to steroid therapy, red blood cell transfusion	1	1	LOVD
00219184	Pat8	PubMed: Doherty 2010	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DBA	no malformation, unresponsive to steroid therapy, red blood cell transfusion	1	1	LOVD
00219185	Pat9	PubMed: Doherty 2010	2-generation family, affected father/daughter	M	-	-	-	-	-	-	-	DBA	no malformation, responsive to steroid therapy	1	2	LOVD
00219186	Pat9d	PubMed: Doherty 2010	daughter	F	-	-	-	-	-	-	-	DBA	no malformation, responsive to steroid therapy, no treatment	1	1	LOVD
00219187	Pat10	PubMed: Doherty 2010	-	M	-	-	-	-	-	-	-	DBA	duplicated pelvocalicon on right kidney, unresponsive to steroid therapy, red blood cell transfusion	1	1	LOVD
00219188	Pat14	PubMed: Doherty 2010	-	F	-	-	-	-	-	-	-	DBA	deceased; no malformation, unresponsive to steroid therapy	1	1	LOVD
00219189	Pat15	PubMed: Doherty 2010	-	M	-	-	-	-	-	-	-	DBA	-	1	1	LOVD
00219190	Pat11	PubMed: Doherty 2010	familial	M	-	-	-	-	-	-	-	DBA	-	1	1	LOVD
00219191	Pat12	PubMed: Doherty 2010	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DBA	inguinal hernia, missing vas deferens (unilateral), slightly abnormal epidymis, pronounced boney prominence of a cervical spinous process; unresponsive to steroid therapy, red blood cell transfusion	1	1	LOVD
00219192	Pat13	PubMed: Doherty 2010	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	DBA	no malformation, responsive to steroid therapy, no treatment	1	1	LOVD
00219193	Pat16	PubMed: Doherty 2010	-	M	-	-	-	-	-	-	-	DBA	no malformation, unresponsive to steroid therapy, red blood cell transfusion	1	1	LOVD
00219194	Pat17	PubMed: Doherty 2010	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	DBA	-	1	1	LOVD
00419574	9071	PubMed: Marinakis 2021	-	M	-	Greece	-	-	-	-	-	?	-	1	1	Jan Traeger-Synodinos

Legend

How to query

Global Variome shared LOVD

RPS26 (ribosomal protein S26)