Disease #00387 (ESCS (S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)), OMIM:268100)

Official abbreviation	ESCS
Name	S-cone syndrome, enhanced (ESCS, Goldmann-Favre syndrome)
OMIM ID	268100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	70
Phenotype entries for this disease	70
Associated with 1 gene	NR2E3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-05-28 08:42:36 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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

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Operator	Column type	Example	Matches
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^	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'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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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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70 entries on 1 page. Showing entries 1 - 70.

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
00032723	-	PubMed: Haider 2000	-	-	-	-	Syrian/Lebanese	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	4	Pascal Escher
00032724	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	2	Pascal Escher
00032725	-	PubMed: Wright 2004	2 families, 2 cases	-	-	Germany	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	2	Pascal Escher
00032726	-	PubMed: Wright 2004	-	-	-	Cuba	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032727	-	PubMed: Khan 2007	-	-	-	Saudi Arabia	Saudi Arabian	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032728	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032729	-	PubMed: Bandah 2009	4 families, 8 cases	-	-	Palestine	Palestinian	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	8	Pascal Escher
00032730	-	PubMed: Bonilha 2009	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	1	1	Pascal Escher
00032733	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032734	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032735	-	PubMed: Haider 2000	2 families, 2 cases	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	2	Pascal Escher
00032736	-	PubMed: Haider 2000	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032737	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032738	-	PubMed: Haider 2000	-	-	-	United Kingdom (Great Britain)	British	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	3	Pascal Escher
00032739	-	PubMed: Vaclavik 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	3	Pascal Escher
00032740	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	2	Pascal Escher
00032741	-	Galantuomo 2008	-	-	-	Italy	Italian	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032742	-	PubMed: Wright 2004	5 families, 6 cases	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	6	Pascal Escher
00032743	-	PubMed: Nakamura 2002	-	-	-	Japan	Japanese	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032744	-	PubMed: Khan 2007	-	-	-	Saudi Arabia	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032745	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032746	-	PubMed: Iannaccone et al.2009	-	-	-	Italy	Italy;Jewish	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032747	-	PubMed: Chavala 2005	-	-	-	-	Arab Emirates	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	1	2	Pascal Escher
00032748	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	1	1	Pascal Escher
00032749	-	PubMed: Pachydaki 2009	2 families, 3 cases	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	1	3	Pascal Escher
00032755	-	PubMed: Nakamura 2004	-	-	-	Japan	Japanese	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032756	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032757	-	PubMed: Haider 2000	-	-	-	-	Spanish-Italian	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	2	Pascal Escher
00032758	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032759	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	2	1	Pascal Escher
00032760	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	2	Pascal Escher
00032761	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032762	-	PubMed: Wright 2004	-	-	-	United Kingdom (Great Britain)	British/American	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032763	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032764	-	PubMed: Wright 2004	-	-	-	United Kingdom (Great Britain)	British/Amerindian	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032766	-	PubMed: Lam 2007	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032767	-	PubMed: Wright 2004	-	-	-	-	British/Italian	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032769	-	PubMed: Wright 2004	-	-	-	-	Europe, west	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032770	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032771	-	PubMed: Audo 2008	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032773	-	PubMed: Wright 2004	-	-	-	United Kingdom (Great Britain)	British	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032774	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032779	-	PubMed: Escher 2009	-	-	-	United States	Jewish-American	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	2	Pascal Escher
00032780	-	PubMed: Bandah 2009	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032781	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032782	-	PubMed: Pachydaki 2009	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	2	1	Pascal Escher
00032783	-	PubMed: Hayashi 2005	-	-	-	Japan	Japanese	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032784	-	PubMed: Wright 2004	-	-	-	Germany	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032785	-	PubMed: Wright 2004	-	-	-	-	British/German	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032786	-	PubMed: Bandah 2009	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032787	-	PubMed: Wright 2004	-	-	-	Italy	Italian	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00032788	-	PubMed: Pachydaki 2009	-	-	-	-	-	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	2	1	Pascal Escher
00032789	-	PubMed: Wright 2004	-	-	-	-	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00032835	-	PubMed: Khan 2010	3 families, 1 case	-	-	Saudi Arabia	Saudi Arabian	-	-	-	-	ESCS	helicoid subretinal fibrosis	NR2E3	NR2E3	1	3	Pascal Escher
00032839	-	PubMed: Rocha-Sousa 2010	-	-	-	Portugal	Portuguese	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00033617	-	PubMed: Kuniyoshi 2013	-	M	-	Japan	Japanese	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00033618	-	PubMed: Kuniyoshi 2013	-	F	-	Japan	Japanese	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00033619	-	PubMed: Udar 2011	-	F	-	Brazil	Brazilian	-	-	-	-	ESCS	Goldmann-Favre syndrome	NR2E3	NR2E3	2	1	Pascal Escher
00033620	-	PubMed: Udar 2011	-	-	-	-	Persian	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00033621	-	PubMed: Siemiatkowska 2011	-	-	-	Indonesia	Indonesian	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	5	Pascal Escher
00033622	-	PubMed: Cima 2012	-	-	-	Croatia (Hrvatska)	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00033624	-	PubMed: Ripamonti 2014	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00033625	-	PubMed: Park 2013	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00033626	-	PubMed: Park 2013	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Pascal Escher
00033627	-	PubMed: Park 2013	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00033628	-	PubMed: Cassiman 2012	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00033636	-	PubMed: Yzer 2013	-	-	-	-	-	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	1	Pascal Escher
00105017	69ORG1	PubMed: de Castro-Miró 2016	-	M	yes	Saudi Arabia	-	-	-	-	-	ESCS	-	-	NRL	1	1	Marta de Castro-Miró
00155507	MOL0045	PubMed: Sharon 2019	family	M	yes	Israel	Arab-Muslim	-	-	-	-	ESCS	-	NR2E3	NR2E3	1	2	Dror Sharon
00155511	MOL0528	PubMed: Sharon 2019	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	ESCS	-	NR2E3	NR2E3	2	1	Dror Sharon

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How to query

Global Variome shared LOVD

HIST1H2BJ (histone cluster 1, H2bj)