All individuals with variants in gene FOXC1

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.

57 entries on 1 page. Showing entries 1 - 57.

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
00059222	-	-	-	M	no	-	-	-	-	-	-	glaucoma	Congenital glaucoma, microphthalmia, iris anomalies, bilateral club foot, cognitive impairment	1	1	Elena Semina
00103997	Vogelaar-059B	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00103999	Vogelaar-112A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104008	Vogelaar-167A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104023	Vogelaar-703A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104039	Vogelaar-772A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00132614	21837767-PatII1	PubMed: Kelberman 2011, Journal: Kelberman 2011	2-generation family, affected father, mother and 2 children	F	-	United Kingdom (Great Britain)	-	-	-	-	-	?	see paper; ..., complex bilateral anterior segment developmental anomalies, corneal cyst	1	4	Daniel Kelberman
00132615	21837767-PatI1	PubMed: Kelberman 2011, Journal: Kelberman 2011	affected father	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	?	see paper; ..., typical Axenfeld-Rieger syndrome	1	1	Johan den Dunnen
00132617	21837767-PatII2	PubMed: Kelberman 2011, Journal: Kelberman 2011	brother	M	no	United Kingdom (Great Britain)	-	-	-	-	-	?	see paper; ..., typical Axenfeld-Rieger syndrome	1	1	Johan den Dunnen
00314017	-	-	-	F	-	-	-	-	-	-	-	?	Axenfeld anomaly (HP:0001492); Glaucoma (HP:0000501)	1	1	Andreas Laner
00316083	K106	PubMed: Heidet 2017	-	-	-	France	-	-	-	-	-	CAKUT	renal hypoplasia; renal dysplasia; cysts	1	1	Johan den Dunnen
00320148	-	-	-	M	-	-	-	-	-	-	-	?	Glaucoma (HP:0000501); Joint hypermobility (HP:0001382); Subvalvular aortic stenosis (HP:0001682); Supravalvular aortic stenosis (HP:0004381)	1	1	IMGAG
00336004	-	PubMed: Sergouniotis 2016	analysis 181 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	-	1	1	LOVD
00336005	-	PubMed: Sergouniotis 2016	analysis 181 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	-	1	2	LOVD
00336006	-	PubMed: Sergouniotis 2016	analysis 181 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	-	1	1	LOVD
00363783	G378	PubMed: Huang 2015	family	F	-	China	-	-	-	-	-	glaucoma	see paper; ...	1	1	LOVD
00382094	10	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	RIEG3	microphthalmia, anophthalmia, and coloboma; MIM, 602482	2	1	LOVD
00382106	54	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382107	67	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	2	1	LOVD
00382108	141	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382109	148	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382110	152	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382111	153	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382112	154	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	2	1	LOVD
00382113	162	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382114	186	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382115	264	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	ASGD3	anterior segment developmental anomalies including glaucoma; MIM, 601631 or 602482	1	1	LOVD
00382757	-	-	-	-	-	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, Glaucoma; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382758	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, high myopia, CHD; no dental anomailty; ocular abnormality; normal umbilicus, PE, iridocorneal adhesions, GL, high myopia,CHD; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382905	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, GL (OD), corneal; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382906	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, GL; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382907	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, IH, corectopia, polycoria, GL, nystagmus, amblyopia; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382908	-	-	-	M	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, corectopia, GL, CLDO; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382909	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, GL, keratoconus, corneal decompensation, cataract; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382910	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, GL, corneal decompensation,CHD; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382911	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, ectropion uvea, GL; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382912	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal decompensation; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382913	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382914	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	Iridocorneal adhesions, ectropion uvea, GL, corneal opacification,CHD; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382915	-	-	-	F	-	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382916	-	-	-	F	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382917	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, polycoria, ectropion uvea, GL; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382918	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382919	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	-	1	2	Youjia Zhang
00382920	-	-	-	F	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL; no dental anomailty; ocular abnormality; normal umbilicus	1	3	Youjia Zhang
00382921	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, ectropion uvea,Hearing loss; no dental anomailty; ocular abnormality; normal umbilicus	1	2	Youjia Zhang
00382936	-	-	-	F	-	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal opacification;Craniofacial abnormalities; no dental anomailty; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00382937	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL; CHD; Growth disorder; hydrocephalus; ; ocular abnormality; normal umbilicus	1	1	Youjia Zhang
00385482	15022193	PubMed: Lenassi 2020	retrospective analysis	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385518	17009449	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00408697	Pat46	PubMed: Thomas 2022	patient, affected father, sister and son	-	no	France	-	-	-	-	-	?	-	1	4	Johan den Dunnen
00434244	Fam25760	PubMed: Jackson 2020	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?	-	1	1	Johan den Dunnen
00450429	RPID1142	PubMed: Hall 2024	-	-	-	-	-	-	-	-	-	AN	sporadic aniridia	1	1	Johan den Dunnen
00450430	RPID1451	PubMed: Hall 2024	-	-	-	-	-	-	-	-	-	AN	aniridia presenting as congenital glaucoma, biscuspid aortic valve, mild aortic stenosis	1	1	Johan den Dunnen
00450431	RPID1732	PubMed: Hall 2024	-	-	-	-	-	-	-	-	-	AN	bilateral aniridia, glaucoma, opaque right cornea, aortic stenosis requiring neonatal surgery (not dysmorphic)	1	1	Johan den Dunnen
00450456	Fam8Pat20	PubMed: Deng 2023	sister	F	yes	Egypt	-	-	-	-	-	SPG	see paper; ..., non complicated hereditary spastic paraplegia, additionaly silver hair due to concomitant Griscelli syndrome	1	1	Johan den Dunnen
00466173	-	-	-	F	-	Brazil	-	-	-	-	-	RIEG3	Congenital heart defect, Patent foramen ovale, Atrial septal defect, congenital glaucoma	1	1	Juliana Mazzeu

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Global Variome shared LOVD

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