Disease #04206 (RIEG (Axenfeld-Rieger syndrome (RIEG)))

Official abbreviation	RIEG
Name	Axenfeld-Rieger syndrome (RIEG)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	39
Phenotype entries for this disease	36
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-21 16:01:52 +01:00 (CET)
Date last edited	N/A

Individuals

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'

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39 entries on 1 page. Showing entries 1 - 39.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00032452	-	-	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	RIEG	anterior segment developmental anomaly, posterior embryotoxon	PITX2	PITX2	1	1	Daniel Kelberman
00132799	-	-	-	-	-	Germany	-	-	-	-	-	RIEG	-	PITX2	PITX2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00151833	-	Hendee et al 2017 (under review)	-	M	-	Serbia	-	-	-	-	-	RIEG	-	PITX2	PITX2	1	1	Elena Semina
00382757	-	-	-	-	-	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, Glaucoma; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	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	FOXC1	FOXC1	1	2	Youjia Zhang
00382905	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, GL (OD), corneal; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	1	Youjia Zhang
00382906	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, GL; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	2	Youjia Zhang
00382907	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, IH, corectopia, polycoria, GL, nystagmus, amblyopia; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	1	Youjia Zhang
00382908	-	-	-	M	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, corectopia, GL, CLDO; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	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	FOXC1	FOXC1	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	FOXC1	FOXC1	1	2	Youjia Zhang
00382911	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, ectropion uvea, GL; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	2	Youjia Zhang
00382912	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal decompensation; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	2	Youjia Zhang
00382913	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	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	FOXC1	FOXC1	1	2	Youjia Zhang
00382915	-	-	-	F	-	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	1	Youjia Zhang
00382916	-	-	-	F	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	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	FOXC1	FOXC1	1	2	Youjia Zhang
00382918	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal opacification; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	1	1	Youjia Zhang
00382919	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	-	FOXC1	FOXC1	1	2	Youjia Zhang
00382920	-	-	-	F	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL; no dental anomailty; ocular abnormality; normal umbilicus	FOXC1	FOXC1	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	FOXC1	FOXC1	1	2	Youjia Zhang
00382922	-	-	-	F	-	China	Chinese	-	-	-	-	RIEG	Iridocorneal adhesions, severe IH, corectopia, polycoria, GL,Dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	4	Youjia Zhang
00382923	-	-	-	F	-	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, polycoria, myopia; dental abnormalities; Umbilical anomalies; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	1	Youjia Zhang
00382924	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, irregular pupil, GL, cataract; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	1	Youjia Zhang
00382925	-	-	-	F	no	China	Chinese	-	-	-	-	RIEG	Iridocorneal adhesions, severe IH, irregular pupil, GL; dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	1	Youjia Zhang
00382926	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	Iridocorneal adhesions, IH, corectopia, GL, corneal opacification (OD); dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	1	Youjia Zhang
00382927	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, GL, high myopia, cataract; dental abnormalities; surgery history for umbili; Craniofacial abnormalitiesl hernia; dental anomailty; ocular abnormality; umbilical hernia	PITX2	PITX2	1	2	Youjia Zhang
00382928	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, IH, corectopia, GL; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	2	Youjia Zhang
00382929	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, GL, cataract; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	2	Youjia Zhang
00382930	-	-	-	M	-	China	Chinese	-	-	-	-	RIEG	Iridocorneal adhesions, severe IH, corectopia, irregular pupil, GL; dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	1	Youjia Zhang
00382931	-	-	-	F	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, severe IH, corectopia, irregular pupil, GL, corneal opacification, high myopia; Craniofacial abnormalities; no dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	2	Youjia Zhang
00382932	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, GL, high myopia, cataract; dental abnormalities; Umbilical anomalies; dental anomailty; ocular abnormality; abnormality umbilicus	PITX2	PITX2	1	2	Youjia Zhang
00382933	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	Iridocorneal adhesions, IH, corectopia, polycoria, GL, high myopia; dental abnormalities; Craniofacial abnormalities; surgery history for umbili;; dental anomailty; ocular abnormality; umbilical hernia	PITX2	PITX2	1	1	Youjia Zhang
00382934	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, polycoria; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	2	Youjia Zhang
00382935	-	-	-	M	yes	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, IH, corectopia, polycoria, ectropion uvea, GL, high myopia; dental abnormalities; kidney stone; dental anomailty; ocular abnormality; normal umbilicus	PITX2	PITX2	1	1	Youjia Zhang
00382936	-	-	-	F	-	China	-	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL, corneal opacification;Craniofacial abnormalities; no dental anomailty; ocular abnormality; normal umbilicus	-	FOXC1	1	1	Youjia Zhang
00382937	-	-	-	M	yes	China	Chinese	-	-	-	-	RIEG	PE, iridocorneal adhesions, GL; CHD; Growth disorder; hydrocephalus; ; ocular abnormality; normal umbilicus	-	FOXC1	1	1	Youjia Zhang
00447931	patient	PubMed: Farris 2024	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	RIEG	see paper; ..., elevated intraocular pressure, anterior chamber abnormalities, guttata both eyes, diffuse, patchy iris atrophy both eyes, posterior embryotoxon both eyes, corectopia left eye; optic nerve cupping consistent with glaucoma right eye; declining vision right eye greater than left; significant visual field loss related to glaucoma right eye, thinning retinal nerve fiber layer both eyes, right greater than left; significant dental anomalies, oligodontia, microdontia; as child redundant periumbilical skin surgically corrected; non-dysmorphic, normal developmental trajectory, held advanced degree; normal hearing; no congenital heart disease	PITX2	PITX2	1	1	Johan den Dunnen

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Global Variome shared LOVD