All individuals with variants in gene FZD4

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.

558 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		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
00106555	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Frans Cremers
00106556	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106557	Fam5PatII1	PubMed: Kondo 2003	2 generation family, 1 affected, unaffected non carrier parents	F	-	Jamaica	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106558	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106559	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Frans Cremers
00106560	-	Muller 2008	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106561	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106562	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106563	12172548-Fam2	PubMed: Robitaille 2002, Journal: Robitaille 2002	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106564	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106565	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106566	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106567	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Frans Cremers
00106568	-	Kondo 2003	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106569	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106570	-	Robitaille 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106571	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106572	-	Omoto 2004	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106573	-	Ells 2010	-	-	-	-	-	-	-	-	-	ROP	retinopathy of prematurity (ROP)	1	1	Johan den Dunnen
00106574	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Frans Cremers
00106576	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106577	-	MacDonald 2005	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106578	-	Qin 2005	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106579	-	Yoshida 2004	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106580	-	Qin 2005	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106581	-	Ells 2010	-	-	-	-	-	-	-	-	-	ROP	retinopathy of prematurity (ROP)	1	1	Johan den Dunnen
00106582	-	Kondo 2003	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106583	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106584	Fam4PatI1	PubMed: Kondo 2003	2-generation family, affected mother/son	F	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	2	2	Johan den Dunnen
00106585	-	Muller 2008	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106586	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Johan den Dunnen
00106587	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	1	Frans Cremers
00106588	12172548-Fam	PubMed: Robitaille 2002, Journal: Robitaille 2002	3-generation family, 29 affecteds (16F, 13M)	F;M	no	Canada	British	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	1	29	Johan den Dunnen
00265202	FamAPatient 1 (son)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	04y	-	yes	-	EVR;FEVR	Retinal detachment HP:0000541	1	2	Dimitra Ilektra Lerou
00265204	FamAPat2 (father)	PubMed: Tian 2019	affected father	M	?	China	-	?	-	no	-	EVR;FEVR	-	1	1	Dimitra Ilektra Lerou
00265205	FamBPat3 (son)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	03y	-	yes	-	EVR;FEVR	Falciform retinal fold HP:0001493	1	2	Dimitra Ilektra Lerou
00265206	FamB Patient 4 Tian 2019 (father)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	?	-	-	-	EVR;FEVR	-	1	1	Dimitra Ilektra Lerou
00265211	FamC Patient 5 Tian 2019 (son)	PubMed: Tian 2019	2-generation family, affetced father/son	M	?	China	-	03y	-	-	-	EVR;FEVR	Norrie Disease with Choroidal Atrophy OMIM:310600	1	2	Dimitra Ilektra Lerou
00265241	FamC Patient 6 Tian 2019 (father)	PubMed: Tian 2019	2-generation family,affected father/son	M	?	China	-	?	-	-	-	EVR;FEVR	-	1	1	Dimitra Ilektra Lerou
00265242	FamD Patient 7 Tian 2019 (son)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	02y	-	yes	-	EVR;FEVR	Retinal folds HP:0008052	1	2	Dimitra Ilektra Lerou
00265243	FamD Patient 8 Tian 2019 (father)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	?	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00265244	Patient 1 Montecinos-Contreras 2016 (son	PubMed: Montecinos-Contreras 2016	2-generation family, affected mother/son	M	?	Mexico	-	13y	-	yes	-	EVR1	Peripheral retinal avascularization HP:0007685	1	2	Dimitra Ilektra Lerou
00265246	Patient 2 Montecinos-Contreras 2016 (mother)	PubMed: Montecinos-Contreras 2016	2-generation family, affected mother/son	F	?	Mexico	-	53y	-	yes	-	EVR1	Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00265248	Patient 1 Khan 2016	PubMed: Khan 2016	2-generation family, unaffected parents/sisters, two affected brothers	M	?	United Arab Emirates	-	?	-	-	-	EVR;FEVR	Leukocoria HP:0000555 Retinal detachment HP:0000541	1	2	Dimitra Ilektra Lerou
00265249	Patient 2 Khan 2016	PubMed: Khan 2016	2-generation family, unaffected parents/sisters, two affected brothers	M	?	United Arab Emirates	-	?	-	no	-	EVR;FEVR	Leukocoria HP:0000555 Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00265288	Patient 1 Yang 2018 (son)	PubMed: Yang 2018	2-generation family, affected father/son	M	no	China	-	07y	-	yes	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052	1	2	Dimitra Ilektra Lerou
00265289	Patient 2 Yang 2018 (father)	PubMed: Yang 2018	2-generation family, affected father/son	M	?	China	-	32y	-	yes	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00265291	3027001	PubMed: Fei 2015	-	F	no	China	Han	02y	-	yes	-	EVR;FEVR	Retinal fold HP:0008052 Retinal detachment HP:0000541 Glaucoma HP:0000501 Cataract HP:0000518	1	1	Dimitra Ilektra Lerou
00265292	3060001	PubMed: Fei 2015	-	F	no	China	Han	03y	-	yes	-	EVR;FEVR	Cataract HP:0000518 Vitreous hemorrhage HP:0007902	1	1	Dimitra Ilektra Lerou
00274215	Patient 1 Kondo 2009	PubMed: Kondo 2009	2-generation family, affected father/mother/daughter, father and mother asymptomatic	F	no	Japan	-	20y	-	-	-	EVR;FEVR	Vitreoretinopathy HP:0007773 Leukocoria HP:0000555 Falciform retinal fold HP:0001493 Remnants of the hyaloid vascular system HP:0007968 Phthisis bulbi HP:0000667 Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00274222	Patient 1 Yoshida 2004	PubMed: Yoshida 2004	2-generation family, affected father/daughter	F	no	Japan	-	13y	-	-	-	EVR;FEVR	Esotropia HP:0000565 Retinal detachment HP:0000541 Retinal hole HP:0011530	1	1	Dimitra Ilektra Lerou
00274320	E1 II:1	PubMed: Wu 2016	2 generation family, 2 affected (1 non-penetrant carrier)	M	no	Taiwan	-	-	-	-	-	EVR1, EVR;FEVR	exudative vitreoretinopathy (HP:0030490)	1	2	Jasmine Chen
00274321	E10 III:10	PubMed: Wu 2016	4 generation family, 5 affected (4 nonpenetrant carriers)	F	no	Taiwan	-	-	-	-	-	EVR1, EVR;FEVR	exudative vitreoretinopathy (HP:0030490)	1	5	Jasmine Chen
00274891	Patient 1 Iwata 2019	PubMed: Iwata 2019	sister of proband had FEVR in infancy and required photocoagulation	M	no	Japan	-	03y	-	-	-	EVR1	Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 Vitreomacular traction HP:0031151	1	1	Dimitra Ilektra Lerou
00275005	Patient 1 Bochicchio 2017	PubMed: Bochicchio 2017	-	F	no	Italy	Hispanic	28y	-	-	-	EVR1	Esotropia HP:0000565 Corneal opacity HP:0007957 Retinal neovascularization HP:0030666	2	1	Dimitra Ilektra Lerou
00275007	Patient 1 Mammo 2015	PubMed: Mammo 2015	-	M	no	Taiwan	-	00y08m	-	-	-	EVR1, SMA	diagnosed with spinal muscular atrophy with SMN1 deletion, Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00275439	Patient 1 Tang 2016	PubMed: Tang 2016	3-generation family, mutation-carrying grandfather, father and elder sister all asympotmatic	M	-	China	Southern Chinese	04y	-	-	-	EVR1	Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00275442	Patient 2 Tang 2016	PubMed: Tang 2016	2-generation family, mutation-carrying mother and brother completely asymptomatic	F	no	China	Souther Chinese	14y	-	-	-	EVR1	Peripheral retinal avascularization HP:0007685 Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275444	Patient 3 Tang 2016	PubMed: Tang 2016	-	M	no	China	Southern Chinese	13y	-	-	-	EVR1	Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275446	Patient 4 Tang 2016	PubMed: Tang 2016	mutation-carrying father and paternal uncle are clinically healthy with avascularity, mutation-carrying paternal aunt clinically healthy without any sign of retinopathy	M	no	China	Southern Chinese	11y	-	-	-	EVR1	Retinal detachment HP:0000541 Ectopic fovea HP:0025007	1	1	Dimitra Ilektra Lerou
00275448	Patient 5 Tang 2016	PubMed: Tang 2016	2-generation, affected but asymptomatic father	M	no	China	Southern Chinese	06y	-	-	-	EVR1	Ectopic fovea HP:0025007 Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275450	Patient 6 Tang 2016	PubMed: Tang 2016	2-generation family, affected father/elder brother	M	no	China	Southern Chinese	08y	-	-	-	EVR1	Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275451	Patient 7 Tang 2016	PubMed: Tang 2016	2-generation family, mutation-carrying mother/elder sister, elder sister asymptomatic	F	no	China	Southern Chinese	00y07m	-	-	-	EVR1	Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275453	Patient 8 Tang 2016	PubMed: Tang 2016	2-generation family, mutation-carrying mother/sister both asymptomatic	M	no	China	Southern Chinese	08y	-	-	-	EVR1	Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 Retinal neovascularization HP:0030666	1	1	Dimitra Ilektra Lerou
00275454	Patient 9 Tang 2016	PubMed: Tang 2016	-	F	no	China	Southern Chinese	26y	-	-	-	EVR1	Retinal neovascularization HP:0030666 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902	1	1	Dimitra Ilektra Lerou
00275455	Patient 10 Tang 2016	PubMed: Tang 2016	2-generation family, mother affected but asymptomatic	F	no	China	Southern Chinese	03y	-	-	-	EVR1	Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275457	Patient 11 Tang 2016	PubMed: Tang 2016	-	M	no	China	Southern Chinese	08y	-	-	-	EVR1	Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275458	Patient 12 Tang 2016	PubMed: Tang 2016	2-generation family, affected father/son	M	no	China	Southern Chinese	15y	-	-	-	EVR1	Ectopic fovea HP:0025007	1	1	Dimitra Ilektra Lerou
00275459	Patient 13 Tang 2016	PubMed: Tang 2016	-	M	no	China	Southern Chinese	12y	-	-	-	EVR1	Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275460	Patient 14 Tang 2016	PubMed: Tang 2016	-	M	no	China	Southern Chinese	10y	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275462	Patient 15 Tang 2016	PubMed: Tang 2016	2-generation family, affected both children	M	no	China	Southern Chinese	10y	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275463	Patient 16 Tang 2016	PubMed: Tang 2016	2-generation family, affected father/mother and two sons	M	no	China	Southern Chinese	15y	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275464	Patient 17 Tang 2016	PubMed: Tang 2016	2-generation family, affected mother/son	M	no	China	Southern Chinese	05y	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275465	Patient 18 Tang 2016	PubMed: Tang 2016	2-generation family, affected mother/daughter	F	no	China	Southern Chinese	00y02m	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275466	Patient 19 Tang 2016	PubMed: Tang 2016	2-generation family, affected mother/son	M	no	China	Southern Chinese	02y	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275467	Patient 20 Tang 2016	PubMed: Tang 2016	2-generation family, affected mother/som	M	no	China	Southern Chinese	04y	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275468	Patient 21 Tang 2016	PubMed: Tang 2016	-	M	no	China	Southern Chinese	00y06m	-	-	-	EVR1	-	1	1	Dimitra Ilektra Lerou
00275469	Patient 1 Omoto 2004	PubMed: Omoto 2004	2-generation family, affected mother/daughter/son	F	no	Japan	-	06y	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Tractional retinal detachment HP:0007917 Falciform retinal fold HP:0001493	1	1	Dimitra Ilektra Lerou
00275470	Patient 2 Omoto 2004	PubMed: Omoto 2004	2-generation family, affected mother/daughter	F	no	Japan	-	01y01m	-	-	-	EVR1	Remnants of the hyaloid vascular system HP:0007968 Exotropia HP:0000577 Retinal fold HP:0008052	1	1	Dimitra Ilektra Lerou
00275471	Patient 1 MacDonald 2005	PubMed: MacDonald 2005	-	?	no	(United States)	-	?	-	-	-	EVR1	-	2	1	Dimitra Ilektra Lerou
00275472	Patient 2 MacDonald 2005	PubMed: MacDonald 2005	-	?	no	(United States)	-	?	-	-	-	ROP	-	1	1	Dimitra Ilektra Lerou
00275476	Patient 1 Edwards 2012	PubMed: Edwards 2012	6-generation family, affected III:11, III:12, III:15, V:16	F	no	Australia	English	75y	-	-	-	EVR;FEVR	Retinal detachment HP:0000541	1	4	Dimitra Ilektra Lerou
00275478	Patient 2 Edwards 2012	PubMed: Edwards 2012	6-generation family, affected III:11, III:12, III:15, V:16	M	no	Australia	English	78y	-	-	-	EVR;FEVR	Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275479	Patient 3 Edwards 2012	PubMed: Edwards 2012	6-generation family, affected III:11, III:12, III:15, V:16	M	no	Australia	English	62y	-	-	-	EVR;FEVR	Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275480	Patient 4 Edwards 2012	PubMed: Edwards 2012	6-generation family, affected III:11, III:12, III:15, V:16	M	no	Australia	English	13y	-	-	-	EVR;FEVR	Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275481	Patient 1 Robitaille 2009	PubMed: Robitaille 2009 PubMed: Robitaille 2002	3-generation family, affected maternal grandmother and aunt	F	no	Canada	-	09y	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Anterior chamber synechiae HP:0007833 Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275483	Patient 2 Robitaille 2002	PubMed: Robitaille 2002	-	?	?	-	European	?	-	-	-	EVR;FEVR	-	1	1	Dimitra Ilektra Lerou
00275698	Fam1PatIV3(Pat16)	PubMed: Nallathambi 2006	4-generation family, affected father/son	M	yes	India	-	18y	-	-	-	EVR;FEVR	Lattice retinal degeneration HP:0007992 Peripheral retinal avascularization HP:0007685 Macilar ectopia	1	2	Dimitra Ilektra Lerou
00275699	Fam1PatIII6(Pat26)	PubMed: Nallathambi 2006	father	M	no	India	-	46y	-	-	-	EVR;FEVR	Typical FEVR symptoms	1	1	Dimitra Ilektra Lerou
00275700	Fam2PatII5(Pat36)	PubMed: Nallathambi 2006	4-generation family, 5 affected (5M)	M	no	India	-	55y	-	-	-	EVR;FEVR	typical FEVR features	1	5	Dimitra Ilektra Lerou
00275701	Fam2PatIII5(Pat46)	PubMed: Nallathambi 2006	cousin	M	no	India	-	28y	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00275702	Fam2PatIII7(Pat56)	PubMed: Nallathambi 2006	cousin	M	no	India	-	22y	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Retinal hole HP:0011530 Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275704	Fam2PatIII8(Pat66)	PubMed: Nallathambi 2006	cousin	M	no	India	-	13y	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Retinal hole HP:0011530 Retinal detachment HP:0000541 Retinal neovascularization HP:0030666 ectopia	1	1	Dimitra Ilektra Lerou
00275705	Fam2PatIII12(Pat76)	PubMed: Nallathambi 2006	son	M	no	India	-	34y	-	-	-	EVR;FEVR	Retinal hole HP:0011530 Peripheral retinal avascularization HP:0007685	1	1	Dimitra Ilektra Lerou
00275706	Fam3PatII1(Pat86)	PubMed: Nallathambi 2006	3-generation family, proband only affected member	M	no	India	-	53y	-	-	-	EVR;FEVR	Retinal neovascularization HP:0030666 Peripheral retinal avascularization HP:0007685 Retinal hole HP:0011530	1	1	Dimitra Ilektra Lerou
00275707	Fam1PatIII1	PubMed: Kondo 2003	3-generation family, 4 affected (4M)	M	no	Japan	-	-	-	-	-	EVR;FEVR	Vitreous floaters HP:0100832 Falciform retinal fold HP:0001493 Retinal exudate HP:0001147 Ectopic fovea HP:0025007	1	1	Dimitra Ilektra Lerou
00275828	Fam2PatIII1	PubMed: Kondo 2003	3-generation family, affected father/paternal uncle/brother/sister but only proband (brother) with symptoms	M	no	Japan	-	-	-	-	-	EVR;FEVR	Ectopic fovea HP:0025007 Retinal exudate HP:0001147 Retinal hole HP:0011530 Retinal detachment HP:0000541 Retinal fold HP:0008052 Corneal opacity HP:0007957	1	1	Dimitra Ilektra Lerou
00275831	Fam1	PubMed: Jia 2010	4-generation family, 6 affected (3F, 3M) father/paternal aunt/paternal uncle, cousins (2) and siblings (2)	F	no	China	-	-	-	-	-	EVR;FEVR	Typical presentation of FEVR	1	6	Dimitra Ilektra Lerou
00275833	Fam2	PubMed: Jia 2010	3-generation family, affected only the proband	F	-	China	-	00y08m	-	-	-	EVR;FEVR	Nystagmus HP:0000639 Retinal detachment HP:0000541	1	1	Dimitra Ilektra Lerou
00275835	Fam14	PubMed: Jia 2010	3-generation family, 2 affected mother/son, parents carriers for two different mutations but asymptomatic	F	no	China	-	35y	-	-	-	EVR;FEVR	Falciform retinal fold HP:0001493	2	2	Dimitra Ilektra Lerou

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Global Variome shared LOVD

FZD4 (frizzled family receptor 4)