All individuals with variants in gene EDNRB

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.

81 entries on 1 page. Showing entries 1 - 81.

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
00089039	-	-	-	-	-	Germany	-	-	-	-	-	HSCR2	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00284961	-	PubMed: Soufir 2005	-	-	-	-	-	-	-	-	-	melanoma	-	1	1	Global Variome, with Curator vacancy
00284962	-	PubMed: Garcia-Barceló 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284964	-	PubMed: Tanaka 1998	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284966	-	PubMed: Garcia-Barceló 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284967	-	PubMed: Amiel 1996	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284968	-	PubMed: Doubaj 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284969	-	PubMed: Auricchio 1996	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284970	-	PubMed: Hofstra 1996	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284971	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284974	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284975	-	PubMed: Soufir 2007	-	-	-	-	-	-	-	-	-	melanoma	-	1	1	Global Variome, with Curator vacancy
00284976	-	PubMed: Amiel 1996	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284977	-	PubMed: Garcia-Barceló 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284978	-	PubMed: Sakai 2000	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284981	-	PubMed: Kusafuka 1996	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284982	-	PubMed: Parisi 1993, PubMed: Puffenberger 1994	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284983	-	PubMed: Kusafuka 1996, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284985	-	PubMed: Inoue 1998	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284987	-	PubMed: Syrris 1999, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	Hirschsprung disease	1	1	Global Variome, with Curator vacancy
00284988	-	PubMed: Soufir 2005	-	-	-	-	-	-	-	-	-	melanoma	-	1	1	Global Variome, with Curator vacancy
00284989	-	PubMed: Garcia-Barceló 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284990	-	PubMed: Svensson 1999	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284992	-	PubMed: Gross 1995, PubMed: Verheij 2002, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284995	-	PubMed: Payne 2001	-	-	-	-	-	-	-	-	-	WS	Hirschsprung disease	1	1	Global Variome, with Curator vacancy
00284996	-	PubMed: Zhou 2006	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284998	-	PubMed: Lin 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285000	-	PubMed: Lin 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285001	-	PubMed: Sánchez-Mejías 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285002	-	PubMed: Granström 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285003	-	PubMed: Lin 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285004	-	PubMed: Sánchez-Mejías 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285005	-	PubMed: Sangkhathat 2006	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285006	-	PubMed: Tanaka 1998	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285007	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285008	-	PubMed: Chen 2006	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285009	-	PubMed: Sánchez-Mejías 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285010	-	PubMed: Sánchez-Mejías 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285012	-	PubMed: Parisi 1993, PubMed: Sánchez-Mejías 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00315523	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315524	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315525	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315526	-	PubMed: Amiel 1996, PubMed: Hofstra 1996	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315527	-	PubMed: Zaahl 2003	-	-	-	China	-	-	-	-	-	HSCR	-	1	1	Veronique Pingault
00315528	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315529	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315530	-	PubMed: Pingault 2010	consanguineous family	F	-	Brazil	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315531	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	2	1	Veronique Pingault
00315532	-	PubMed: Attie 1995, PubMed: Attie 1995	-	F	yes	Tunisia	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315533	-	PubMed: Garcia-Barcelo 2004	-	-	-	China	-	-	-	-	-	HSCR	-	1	1	Veronique Pingault
00315534	-	PubMed: Boardman 2001	-	F	no	Somalia	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315535	-	PubMed: Sangkhathat 2005	-	F	no	Thailand	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315536	-	PubMed: Pingault 2010	-	M	-	-	-	-	-	-	-	WS	-	2	1	Veronique Pingault
00315537	-	PubMed: Verheij 2002	-	-	yes	Turkey	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315538	-	PubMed: Pingault 2010	-	M	yes	Pakistan	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315539	-	PubMed: Pingault 2010	-	-	-	Italy	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315540	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Veronique Pingault
00315541	-	PubMed: Syrris 1999	-	-	-	-	Caribbean	-	-	-	-	WS	-	1	1	Veronique Pingault
00315542	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	depigmentation in father	2	1	Veronique Pingault
00315543	-	PubMed: Pingault 2010	-	-	-	Italy	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315544	-	PubMed: Puffenberger 1994	very large inbred family over several generations	-	yes	United States	Mennonite	-	-	-	-	WS	depigmentations in heterozygous relatives	1	1	Veronique Pingault
00315545	-	PubMed: Pingault 2002	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315546	-	PubMed: Pingault 2010	-	M	yes	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315547	-	PubMed: Auricchio 1996	-	-	-	Italy	-	-	-	-	-	HSCR	-	1	1	Veronique Pingault
00315548	-	PubMed: Pingault 2010	-	M	-	-	-	-	-	-	-	WS	-	2	1	Veronique Pingault
00315549	-	PubMed: [Haddad (2011)]	-	M	yes	Lebanon	-	-	-	-	-	WS	-	1	2	Veronique Pingault
00315550	-	PubMed: Pingault 2010	-	-	-	Lebanon	-	-	-	-	-	WS	depigmentations in relatives	1	1	Veronique Pingault
00315551	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315552	-	PubMed: Van Camp 1995	-	M	-	-	-	-	-	-	-	WS	psychomotor delay	1	1	Veronique Pingault
00315553	-	PubMed: Shanske 2001	-	F	-	-	West Africa	-	-	-	-	WS	psychomotor delay	1	1	Veronique Pingault
00315554	-	PubMed: Tuysuz 2009	+ 13q deletion syndrome	M	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315555	-	PubMed: Tuysuz 2009}	+ 13q deletion syndrome	F	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315556	-	PubMed: Tuysuz 2009}	+ 13q deletion syndrome	F	-	-	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315557	FamPatII5	PubMed: Cui 2013	3-generation family, 5 affected (2F, 3M), mixed phenotypes	M	-	Brazil	European	-	-	-	-	HSCR	see paper; ..., Hirschsprung disease, heterochromia iridum	1	5	Veronique Pingault
00315558	-	PubMed: Jabeen 2012	-	-	-	Pakistan	-	-	-	-	-	WS	-	2	1	Veronique Pingault
00361903	-	-	-	-	-	-	-	-	-	-	-	WS1, WS4A	Heterochromia iris, telecanthus, white forelock, bilateral profound to severe hearing loss and hypopigmented patches of skin on the forehead, chest and upper limbs. Father (II-2) and paternal grandmother (I-2) had heterochromis irides. Mother (II-3) had white forelock	1	1	Anju Shukla
00410946	II-4	PubMed: Wang 2017	-	F	no	China	Chinese	-	-	-	-	retinal disease	heterochromia irides, night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina	1	1	LOVD
00410947	II-5	PubMed: Wang 2017	-	M	no	China	Chinese	-	-	-	-	retinal disease	night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina	1	1	LOVD
00441187	DEM4005	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441513	5426	PubMed: Boucher 2020	-	-	-	France	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00465491	-	PubMed: Wu 2019	analysis 1291 cases hearing loss	-	-	Taiwan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

EDNRB (endothelin receptor type B)