All individuals with variants in gene POU3F4

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.

119 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00060263	-	PubMed: Parzefall 2013, Journal: Parzefall 2013	Congenital, profound HL; Mondini	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNX2	-	1	1	Zippi Brownstein
00114816	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114817	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114818	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked (DFN-3)	1	1	LOVD
00114819	PatDP20	PubMed: de Kok 1995	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked (DFN-3); MR; choroideremia( CH)M	1	1	LOVD
00114820	PatXL45	PubMed: de Kok 1995	-	M	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked (DFN-3); MR; choroideremia( CH)M	1	1	LOVD
00114821	-	-	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNX2	DFNX2; Hearing_loss	1	1	Thomas Parzefall
00114822	-	-	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNX2	DFNX2; Hearing_loss	1	1	Thomas Parzefall
00114823	-	-	4-generation family, 5 affected males	M	-	-	-	-	-	-	-	DFNX	deafness, sensorineural, X-linked	1	5	LOVD
00114824	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114825	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, sensorineural, X-linked	1	1	LOVD
00114826	-	-	-	-	-	France	-	-	-	-	-	DFNX	deafness, sensorineural, X-linked	1	1	LOVD
00114827	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114828	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114829	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114830	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114831	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114832	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114833	-	-	2-generation family, 2 affected brothers	M	-	Finland	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	2	LOVD
00114834	-	-	4-generation family, 3 affecteds; mother germline mosaic	M	-	United Kingdom (Great Britain)	-	-	-	-	-	DFNX	deafness, sensorineural, X-linked	1	3	LOVD
00114835	Pat5823	PubMed: de Kok 1995	-	M	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114837	Pat3105	PubMed: de Kok 1995	-	M	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114838	Pat3055	PubMed: de Kok 1995	-	M	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114839	Pat5736	PubMed: de Kok 1995	-	M	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114840	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114841	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114842	-	-	-	M	?	-	-	-	-	-	-	DFNX	DFN3	1	1	LOVD
00114843	Pat1185	PubMed: de Kok 1997	-	M	no	-	-	-	-	-	-	DFNX	DFN3	1	1	LOVD
00114844	-	-	-	-	-	Japan	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114845	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114846	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114847	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114848	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, mixed, X-linked	1	1	LOVD
00114849	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, X-linked	1	1	LOVD
00114850	-	-	3-generation family, 2 affected males	M	-	Korea	-	-	-	-	-	DFNX	DFN3	3	2	LOVD
00114851	-	-	3-generation family, 2 affected brothers	M	-	Korea	-	-	-	-	-	DFNX	DFN3	3	2	LOVD
00114852	FamSV08-17	PubMed: Lee 2009	4-generation family, 5 affected males	M	-	Korea	-	-	-	-	-	DFNX	DFN3	1	5	LOVD
00114853	FamSV08-21	PubMed: Lee 2009	3-generation family, 2 affected males	M	-	Korea	-	-	-	-	-	DFNX	DFN3	1	2	LOVD
00114854	FamSV08-18	PubMed: Lee 2009	4-generation family, 5 affected males	M	-	Korea	-	-	-	-	-	DFNX	DFN3	1	5	LOVD
00114855	-	-	-	-	-	-	-	-	-	-	-	DFNX	DFN3	1	1	LOVD
00114856	-	-	-	-	-	-	-	-	-	-	-	DFNX	DFN3	1	1	LOVD
00114857	-	-	-	-	-	-	-	-	-	-	-	DFNX	hearing loss, X-linked, nonsyndromic	1	1	LOVD
00114858	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, X-linked	1	1	LOVD
00114859	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, sensorineural, X-linked	1	1	LOVD
00114860	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, X-linked	1	1	LOVD
00114861	-	-	-	-	-	-	-	-	-	-	-	DFNX	deafness, X-linked	1	1	LOVD
00114862	-	-	4-generation family, 4 unaffected carrier females	M	-	-	-	-	-	-	-	?	-	1	4	LOVD
00114863	-	-	2-generation family, unaffected carrier mother	M	-	Finland	-	-	-	-	-	?	-	1	1	LOVD
00114864	-	-	4-generation family, unaffected carrier female; mother germline mosaic	M	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	1	1	LOVD
00114866	-	-	3-generation family, unaffected carrier female	M	-	Korea	-	-	-	-	-	?	-	1	1	LOVD
00114867	-	-	3-generation family, unaffected carrier mother/grandmother	M	-	Korea	-	-	-	-	-	?	-	1	2	LOVD
00114868	-	-	3-generation family, unaffected carrier mother/grandmother	M	-	Korea	-	-	-	-	-	?	-	1	2	LOVD
00114869	-	-	3-generation family, unaffected carrier female	M	-	Korea	-	-	-	-	-	?	-	1	1	LOVD
00114870	-	-	3-generation family, unaffected carrier mother/grandmother	M	-	Korea	-	-	-	-	-	?	-	1	2	LOVD
00114871	-	-	3-generation family, unaffected carrier female	M	-	Korea	-	-	-	-	-	?	-	1	1	LOVD
00114875	19377261-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	MRX; details are available upon request; contact Lucy Raymond (flr24 @ cam.ac.uk)	1	1	Lucy Raymond
00114876	-	-	-	-	-	-	-	-	-	-	-	?	incomplete partition type III anomaly	4	1	Byung Yoon Choi
00114877	-	-	-	-	-	-	-	-	-	-	-	?	-	2	1	LOVD
00114878	19377262-Pat?	PubMed: Tarpey 2009	-	-	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	MRX; details are available upon request; contact Lucy Raymond (flr24 @ cam.ac.uk)	1	2	Lucy Raymond
00285690	-	-	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285691	-	PubMed: Parzefall 2013	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285692	-	PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Waryah 2011	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285694	-	PubMed: Lee 2009	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285695	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285696	-	PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Stankovic 2010	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285697	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285698	-	PubMed: Choi 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285699	-	PubMed: Hagiwara 1998	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285700	FamPat5274	PubMed: Reardon 1991, PubMed: de Kok 1995	5-generation family, 8 affected, 7 unaffected carrier females	M	-	United Kingdom (Great Britain)	-	-	-	-	-	deafness	deafness, X-linked, mixed	1	8	Global Variome, with Curator vacancy
00285702	SNUBH9-21;SB9	PubMed: Choi 2013, PubMed: Choi 2013	-	M	-	Korea	-	-	-	-	-	deafness	microtia ; microdontia; conductive hearing loss in DFNX2, IP type III	1	1	Global Variome, with Curator vacancy
00285704	-	PubMed: Yang 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285705	-	PubMed: Smith 1993, PubMed: Alford 2014, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285706	SB23-54	PubMed: Choi 2013	-	-	-	Korea	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285707	-	PubMed: Friedman 1997	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285708	-	PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285709	-	PubMed: Moteki 2015	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285710	-	PubMed: Bademci 2015	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285711	-	PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993, PubMed: Parzefall 2013	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285712	-	PubMed: Smith 1993, PubMed: Alford 2014, PubMed: Bitner-Glindzicz 1995, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285714	-	PubMed: Bademci 2015	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285715	-	PubMed: Park 2014	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285716	-	PubMed: Bademci 2015	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285717	-	PubMed: Smith 1993, PubMed: Alford 2014, PubMed: Bitner-Glindzicz 1995, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285718	-	PubMed: Smith 1993, PubMed: Alford 2014, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285720	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285724	-	PubMed: Friedman 1997	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285727	-	PubMed: Smith 1993, PubMed: Alford 2014 1060, 354, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	microtia ; microdontia	1	1	Global Variome, with Curator vacancy
00285728	SNUBH11-26;SB11	PubMed: Choi 2013, PubMed: Choi 2013	-	M	-	Korea	-	-	-	-	-	deafness	microtia ; microdontia; conductive hearing loss in DFNX2, IP type III	1	1	Global Variome, with Curator vacancy
00285729	-	PubMed: Smith 1993, PubMed: Duzkale 2013, PubMed: Alford 2014, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00306778	-	-	-	M	-	-	-	-	-	-	-	?	Sensorineural hearing impairment (HP:0000407)	1	1	Gunnar Schmidt
00397390	SNUBH8-19;SB8	PubMed: Choi 2013, PubMed: Choi 2013	-	M	-	Korea	-	-	-	-	-	deafness	conductive hearing loss in DFNX2, IP type III	1	1	Johan den Dunnen
00397391	SNUBH7-18;SB7	PubMed: Choi 2013, PubMed: Choi 2013	-	M	-	Korea	-	-	-	-	-	deafness	conductive hearing loss in DFNX2, IP type III	1	1	Johan den Dunnen
00397392	SB13-29	PubMed: Choi 2013	-	M	-	Korea	-	-	-	-	-	deafness	-	1	1	Johan den Dunnen
00397393	SNUH17-42	PubMed: Choi 2013	-	M	-	Korea	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00397402	SB02-6	PubMed: Choi 2013	family, 2 affected	-	-	Korea	-	-	-	-	-	HL	Incomplete partition type III	1	2	Johan den Dunnen
00397403	SB07-18	PubMed: Choi 2013	family, 3 affected	-	-	Korea	-	-	-	-	-	HL	Incomplete partition type III	1	3	Johan den Dunnen
00397404	SB08-19	PubMed: Choi 2013	family, 2 affected	-	-	Korea	-	-	-	-	-	HL	Incomplete partition type III	1	2	Johan den Dunnen
00397405	SB09-21	PubMed: Choi 2013	family, 4 affected	-	-	Korea	-	-	-	-	-	HL	Incomplete partition type III	1	4	Johan den Dunnen
00397406	SB13-29	PubMed: Choi 2013	family, 2 affected	-	-	Korea	-	-	-	-	-	HL	Incomplete partition type III	1	2	Johan den Dunnen
00397414	family	PubMed: Arellano 2000	3-generation family, 3 affected	-	-	Spain	-	-	-	-	-	HL	-	1	3	Johan den Dunnen

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Global Variome shared LOVD

POU3F4 (POU class 3 homeobox 4)