All individuals with variants in gene GREB1L

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.

53 entries on 1 page. Showing entries 1 - 53.

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
00032349	-	PubMed: Jang 2015, Journal: Jang 2015	4-generation family, 8 affecteds (5F, 3M)	-	-	Korea	-	-	-	-	-	?	see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, ..	1	8	Johan den Dunnen
00132986	29100090-FamDC8	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, multicystic dysplastic kidney left, congenital megaureter	1	1	Johan den Dunnen
00132987	29100090-FamDC9	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left; unicornate uterus, agenesis of left ovary	1	1	Johan den Dunnen
00132988	29100090-FamDC10	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal dysplasia left, duplication ureter	1	1	Johan den Dunnen
00132989	FamDC11	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	1	1	Paula Rozenfeld
00132990	FamDC12	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	affected mother	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis right	1	1	Paula Rozenfeld
00132991	FamDC13	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	affected sister (VUR), mother (uterus anomaly)	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis bilateral, bladder agenesis; Potter sequence	1	1	Paula Rozenfeld
00132992	FamDC14	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	1	1	Paula Rozenfeld
00132993	FamDC15	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	M	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	1	1	Paula Rozenfeld
00132994	FamDC16	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	affected sister (VUR), fatehr (?)	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal agenesis left	1	1	Paula Rozenfeld
00147062	29100091-Fam1	PubMed: de Tomasi 2017	2-generation family, 3 affecteds (F, 2M), unaffected carrier mother	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	1	3	Johan den Dunnen
00147063	29100091-Fam2	PubMed: de Tomasi 2017	2-generation family, 4 affecteds (3F, M)	F;M	-	France	-	-	-	-	-	CAKUT	2 affected unilateral cases, 2 deceased bilateral cases	1	4	Johan den Dunnen
00147064	29100091-Fam3	PubMed: de Tomasi 2017	2-generation family, 4 affecteds (F, 3M)	F;M	-	France	-	-	-	-	-	CAKUT	2 affected unilateral cases, 2 deceased bilateral cases	1	4	Johan den Dunnen
00147065	29100091-Fam4	PubMed: de Tomasi 2017	2-generation family, 2 affecteds (F, M), unaffected carrier mother	F;M	-	France	-	-	-	-	-	CAKUT	2 deceased bilateral cases	1	2	Johan den Dunnen
00147066	29100091-Fam5	PubMed: de Tomasi 2017	2-generation family, 3 affecteds (2F, M)	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	1	3	Johan den Dunnen
00147067	29100091-Fam6	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier mother	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	1	1	Johan den Dunnen
00147068	29100091-Fam7	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier mother	F	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	1	1	Johan den Dunnen
00147069	29100091-Fam8	PubMed: de Tomasi 2017	2-generation family, 3 affecteds	-	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	1	3	Johan den Dunnen
00147070	29100091-Fam9	PubMed: de Tomasi 2017	2-generation family, 3 affecteds (2F, M)	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 2 deceased bilateral cases	1	3	Johan den Dunnen
00147071	29100091-Fam10	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	1	1	Johan den Dunnen
00147072	29100091-Fam11	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	1	1	Johan den Dunnen
00147073	29100091-Fam12	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	1	1	Johan den Dunnen
00147074	29100091-Fam13	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier mother	M	-	France	-	-	-	-	-	CAKUT	1 deceased bilateral case	1	1	Johan den Dunnen
00147075	29100091-Fam14	PubMed: de Tomasi 2017	2-generation family, 2 affecteds (F, M), unaffected carrier sib	F;M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case, 1 deceased bilateral case	1	2	Johan den Dunnen
00147076	29100091-Fam15	PubMed: de Tomasi 2017	2-generation family, 1 affected, unaffected carrier father	F	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case	1	1	Johan den Dunnen
00147077	29100091-Fam16	PubMed: de Tomasi 2017	2-generation family, 1 affected	M	-	France	-	-	-	-	-	CAKUT	1 affected unilateral case	1	1	Johan den Dunnen
00307269	family	3-generation family, 4 affected (F, 2M, fetus)	-	F;M	-	China	-	-	-	-	-	RHDA	see paper; ...	1	1	Johan den Dunnen
00428311	FamPatIII8	PubMed: Adadey 2022	3-generation family, 1 affected (1M), 15 unaffected (8F, 7M), three individuals screened (proband, mother, brother)	M	no	Ghana	Africa	-	-	-	-	DFNA	profound bilateral, symmetrical sensorineural hearing impairment (HP:0000365); no enal tubular dysfunction (-HP:0000124)	1	1	Yacouba Dia
00428318	Pat1	PubMed: Schrauwen 2018	2-generation family, 1 affected, unaffected non carrier parents	M	-	-	-	-	-	-	-	deafness	profound bilateral sensorineural hearing impairment, right bilateral cochlear aplasia, left unilateral incomplete partition type I; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia; absent or malformed cochleae, absent eighth cranial nerves	1	1	Johan den Dunnen
00428319	Pat2	PubMed: Schrauwen 2018	2-generation family, 1 affected, unaffected non carrier parents	M	-	-	-	-	-	-	-	deafness	bilaterally absent cochleae, enlarged vestibules, dysplastic SCCs; profound bilateral sensorineural hearing impairment, bilateral cochlear aplasia; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia	1	1	Johan den Dunnen
00428370	Fam1PatI1?ii2/II3	PubMed: Schrauwen 2020	2-generation family, 3 affected (father, son, daughter)	F;M	-	Pakistan	-	-	-	-	-	deafness	profound sensorineural hearing impairment; no gross vestibular dysfunction	1	3	Johan den Dunnen
00428371	Fam2	PubMed: Schrauwen 2020	2-generation family, 1 affected, unaffected carrier mother	F	no	Egypt	-	-	-	-	-	deafness	profound bilateral sensorineural hearing impairment, bilateral cochlear aplasia; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia	1	1	Johan den Dunnen
00428380	Fam5PatIV1	PubMed: Jacquinet 20209	4-generation family, 5 affected (2F, 3M), fetus son	M	-	-	-	<0d	-	-	-	?	unilateral renal agenesis, multicystic kidney disease	1	5	Johan den Dunnen
00428381	Fam5PatIII2	PubMed: Jacquinet 20209	mother	F	-	-	-	-	-	-	-	?	unilateral renal agenesis	1	1	Johan den Dunnen
00428382	Fam5PatII1	PubMed: Jacquinet 20209	grandfather	M	-	-	-	-	-	-	-	?	unilateral renal agenesis	1	1	Johan den Dunnen
00428383	Fam5PatIII5	PubMed: Jacquinet 20209	asymptomatic relative	F	-	-	-	-	-	-	-	Healthy/Control	asymptomatic (fetus with uterovaginal aplasia and bilateral renal agenesis)	1	1	Johan den Dunnen
00428384	Fam6PatIV1	PubMed: Jacquinet 20209	4-generation family, 3 affected (3F), fetus daughter (unaffected carrier mother)	F	-	-	-	<0d	-	-	-	?	unilateral renal agenesis, multicystic kidney disease	1	3	Johan den Dunnen
00428385	Fam6PatIII5	PubMed: Jacquinet 20209	relative	F	-	-	-	-	-	-	-	?	Mayer-Rokitansky-Kuster-Hauser syndrome type 2; unilateral renal agenesis; mild scoliosis	1	1	Johan den Dunnen
00428386	Fam6PatIII4	PubMed: Jacquinet 20209	aunt	F	-	-	-	-	-	-	-	?	Mayer-Rokitansky-Kuster-Hauser syndrome type 2; unilateral renal agenesis	1	1	Johan den Dunnen
00428387	Fam7PatIII1	PubMed: Jacquinet 20209	4-generation family, 4 affected (3F, M), father	M	-	-	-	-	-	-	-	?	unilateral renal agenesis	1	4	Johan den Dunnen
00428388	Fam7PatIV2	PubMed: Jacquinet 20209	daughter	F	-	-	-	-	-	-	-	?	unilateral renal agenesis	1	1	Johan den Dunnen
00428389	Fam7PatIV1	PubMed: Jacquinet 20209	fetus daughter	F	-	-	-	<0d	-	-	-	?	terovaginal aplasia, bilateral renal agenesis, streak gonads, ureter and bladder aplasia	1	1	Johan den Dunnen
00428390	Fam9PatIII1	PubMed: Jacquinet 20209	3-generation family, 2 affected fetus sisters	F	-	-	-	<0d	-	-	-	?	uterovaginal aplasia, bilateral renal agenesis, ureter and bladder aplasia	2	3	Johan den Dunnen
00428391	Fam9PatIII2	PubMed: Jacquinet 20209	fetus sister	F	-	-	-	<0d	-	-	-	?	uterovaginal aplasia, bilateral renal agenesis, ureter and bladder aplasia, unilateral hexadactyly	2	1	Johan den Dunnen
00428392	Fam9PatII2	PubMed: Jacquinet 20209	father	M	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00428393	U113	PubMed: Jacquinet 20209	-	-	-	-	-	-	-	-	-	?	ectopic kidney, VUR, duplicated ureter, Mayer-Rokitansky-Kuster-Hauser syndrome type 2, unilateral, polydactyly, facial asymmetry	1	1	Johan den Dunnen
00428394	U042	PubMed: Jacquinet 20209	fetus, unaffected heterozygous carrier father	-	-	-	-	-	-	-	-	?	uterovaginal aplasia, streak ovaries, unilateral renal agenesis, multicystic kidney disease, 11 pairs of ribs, cervical hemivertebrae	1	1	Johan den Dunnen
00428395	U125	PubMed: Jacquinet 20209	-	-	-	-	-	-	-	-	-	?	unilateral renal agenesis, Mayer-Rokitansky-Kuster-Hauser syndrome type 2	1	1	Johan den Dunnen
00428396	U098	PubMed: Jacquinet 20209	-	-	-	-	-	-	-	-	-	?	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	1	1	Johan den Dunnen
00428397	U147	PubMed: Jacquinet 20209	-	-	-	-	-	-	-	-	-	?	Mayer-Rokitansky-Kuster-Hauser syndrome type 2, ectopic kidney	1	1	Johan den Dunnen
00428398	U120	PubMed: Jacquinet 20209	-	-	-	-	-	-	-	-	-	?	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	1	1	Johan den Dunnen
00428399	U149	PubMed: Jacquinet 20209	-	-	-	-	-	-	-	-	-	?	Mayer-Rokitansky-Kuster-Hauser syndrome type 2, mild caliectasis, vertebral anomalies, imperforate anus	1	1	Johan den Dunnen
00465242	-	-	-	M	-	- (not applicable)	white	-	-	-	-	renal failure	HP:0000089, HP:0000104, HP.0008678, HP:0010958, HP:0012584, HP:0012582, HP:0001627, HP:0001638, HP:0011723, HP:0045017, HP:0002089	1	1	Marketa Wayhelova

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Global Variome shared LOVD

GREB1L (growth regulation by estrogen in breast can...)