Disease #00350 (DFNA1 (deafness, autosomal dominant, type 1), OMIM:124900)

Official abbreviation	DFNA1
Name	deafness, autosomal dominant, type 1
OMIM ID	124900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	312
Phenotype entries for this disease	236
Associated with 3 genes	CEACAM16, DIAPH1, GRHL2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-03-13 13:45:31 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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.

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Operator	Column type	Example	Matches
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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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
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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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312 entries on 4 pages. Showing entries 1 - 100.

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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
00016189	-	PubMed: Zhang 2014	4-generation family, 11 affected (5F, 6M)	F;M	no	China	Chinese	-	-	-	-	DFNA1	nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning	TBC1D24	AIM2, BNC2, EFNA1, EHHADH, FNDC1, KCNN3, KRT33B, SUCO, TBC1D24, TTC39B	10	11	Tao Yang
00033915	-	PubMed: Abe 2003	-	-	-	Japan	-	-	-	-	-	DFNA1	no vestibular, visual, renal, or muscular involvement	CRYM	CRYM	1	1	Johan den Dunnen
00033916	-	PubMed: Abe 2003	mother of 12471561-Fam1d	-	-	Japan	-	-	-	-	-	DFNA1	no vestibular, visual, renal, or muscular involvement	CRYM	CRYM	1	1	Johan den Dunnen
00033917	-	PubMed: Abe 2003	daugther of 12471561-Fam1m	-	-	Japan	-	-	-	-	-	DFNA1	no vestibular, visual, renal, or muscular involvement	CRYM	CRYM	1	1	Johan den Dunnen
00033918	-	-	-	-	-	Japan	-	-	-	-	-	DFNA1	nonsyndromic deafness	CRYM	CRYM	1	90	Johan den Dunnen
00033919	-	-	-	-	-	Japan	-	-	-	-	-	DFNA1	nonsyndromic deafness	CRYM	CRYM	1	3	Johan den Dunnen
00033920	-	-	-	-	-	Japan	-	-	-	-	-	DFNA1	nonsyndromic deafness	CRYM	CRYM	1	84	Johan den Dunnen
00033921	-	-	-	-	-	Japan	-	-	-	-	-	DFNA1	nonsyndromic deafness	CRYM	CRYM	1	94	Johan den Dunnen
00037767	-	PubMed: Zeco 2015, Journal: Zeco 2015	3-generation family, 3 affecteds (grand mother, son, grandson)	F;M	no	Spain	-	-	-	-	-	DFNA1	-	KITLG	KITLG	1	3	Helger Yntema
00037770	-	PubMed: Zeco 2015, Journal: Zeco 2015	5-generation family, 13 affecteds (7F, 6M)	F;M	no	Netherlands	-	-	-	-	-	DFNA1	see paper; ...	KITLG	KITLG	1	13	Helger Yntema
00043744	-	PubMed: Yang 2007	-	-	-	Taiwan	-	-	-	-	-	DFNA1	-	GJB6	GJB6	1	1	Julia Lopez
00043836	-	-	DFNA9	M	-	Korea, South (Republic)	Asian	-	-	52	-	DFNA1	DFNA9	COCH	COCH, TPRN	2	1	Han Sang Kim
00043837	-	-	DFNA9	M	-	Korea, South (Republic)	Asian	-	-	48	-	DFNA1	DFNA9	COCH	COCH, TPRN	2	1	Han Sang Kim
00055302	-	-	-	-	-	-	-	-	-	-	-	DFNA1	-	GJB3	GJB3	1	1	Michel van Geel
00055303	-	-	-	-	-	-	-	-	-	-	-	DFNA1	-	GJB3	GJB3	1	1	Michel van Geel
00055307	-	-	2-generation family, 2 affecteds	-	-	China	-	-	-	-	-	DFNA1	-	GJB3	GJB3	2	3	Michel van Geel
00055308	-	-	2-generation family, 1 affected	-	-	China	-	-	-	-	-	DFNA1	-	GJB3	GJB3	2	2	Michel van Geel
00055315	-	-	3-generation family, 2 affecteds, unaffected carrier father	-	-	-	-	-	-	-	-	DFNA1	-	GJB3	GJB3	2	3	Michel van Geel
00055322	-	-	-	-	-	-	-	-	-	-	-	DFNA1	-	GJB3	GJB3	1	1	Michel van Geel
00055323	-	-	-	-	-	-	-	-	-	-	-	DFNA1	-	GJB3	GJB3	1	1	Michel van Geel
00055347	-	-	-	-	-	-	-	-	-	-	-	DFNA1	-	GJB3	GJB3	1	1	Johan den Dunnen
00060255	-	PubMed: Brownstein 2011, Journal: Brownstein 2011	3-generation family, 3 affecteds (2F, 3M)	F;M	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNA1	DFNA-6/14/38; congenital NSHL, low-tone, U-shaped audiogram	-	WFS1	1	5	Zippi Brownstein
00079876	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	DFNA1	-	-	MYO6	1	1	Mieke Wesdorp
00088950	-	PubMed: Neuhaus 2016	-	M	no	Germany	white	-	-	-	-	DFNA1	-	-	DIAPH1	1	1	Hanno Bolz
00088953	-	PubMed: Neuhaus 2016	-	M	no	Germany	white	-	-	-	-	DFNA1	-	-	DIAPH1	1	1	Hanno Bolz
00154479	19363479-Fam1	PubMed: Mencia 2009	5-generation family, 1 affecteds (20F, 17M)	F;M	no	Spain	-	-	-	-	-	DFNA1	see paper; ...	MIR96	MIR96	1	37	Johan den Dunnen
00154480	19363479-Fam2	PubMed: Mencia 2009	4-generation family, 4 affecteds (F, 3M)	F;M	no	Spain	-	-	-	-	-	DFNA1	see paper; ..., progressive, high-frequency hearing loss	MIR96	MIR96	1	4	Johan den Dunnen
00163025	26648831-Pat1	PubMed: Hofrichter 2015, Journal: Hofrichter 2015	Proband	M	-	Germany	-	-	-	-	-	DFNA1	-	CEACAM16	CEACAM16	1	1	Barbara Vona
00163058	-	PubMed: Volk et al., 2013	proband	M	-	Germany	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163059	-	PubMed: Volk et al., 2013	relative	F	-	Germany	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163060	-	PubMed: Volk et al., 2013	relative	F	-	Germany	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163061	-	PubMed: Volk et al., 2013	relative	F	-	Germany	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163062	-	PubMed: Volk et al., 2013	relative	F	-	Germany	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163063	-	PubMed: Volk et al., 2013	relative	M	-	Germany	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163064	SB60-107	PubMed: Choi 2013	proband	M	-	Korea	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163065	SH21-50	PubMed: Choi 2013	proband	F	-	Korea	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163066	-	PubMed: Miyagawa et al., 2013	proband	F	-	Japan	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163067	-	PubMed: Kwon et al., 2014	proband	F	-	Korea	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163070	-	PubMed: Mohiddin et al., 2004	proband	M	-	-	-	-	-	-	-	DFNA1	Cardiac hypertrophy and QT interval prolongation	MYO6	MYO6	1	1	Anne-Françoise Roux
00163071	-	PubMed: Mohiddin et al., 2004	relative	M	-	-	-	-	-	-	-	DFNA1	Cardiac hypertrophy and QT interval prolongation	MYO6	MYO6	1	1	Anne-Françoise Roux
00163072	-	PubMed: Mohiddin et al., 2004	relative	M	-	-	-	-	-	-	-	DFNA1	Cardiac hypertrophy and QT interval prolongation	MYO6	MYO6	1	1	Anne-Françoise Roux
00163073	-	PubMed: Mohiddin et al., 2004	relative	M	-	-	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163074	-	PubMed: Mohiddin et al., 2004	relative	F	-	-	-	-	-	-	-	DFNA1	Abnormal ECG	MYO6	MYO6	1	1	Anne-Françoise Roux
00163075	-	PubMed: Mohiddin et al., 2004	relative	F	-	-	-	-	-	-	-	DFNA1	Abnormal ECG	MYO6	MYO6	1	1	Anne-Françoise Roux
00163076	-	PubMed: Mohiddin et al., 2004	relative	F	-	-	-	-	-	-	-	DFNA1	Cardiac hypertrophy and QT interval prolongation	MYO6	MYO6	1	1	Anne-Françoise Roux
00163077	-	PubMed: Mohiddin et al., 2004	relative	M	-	-	-	-	-	-	-	DFNA1	Abnormal ECG	MYO6	MYO6	1	1	Anne-Françoise Roux
00163078	-	PubMed: Mohiddin et al., 2004	relative	F	-	-	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163079	-	PubMed: Mohiddin et al., 2004	relative	F	-	-	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163080	-	PubMed: Shearer et al., 2010	proband	-	-	-	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163081	-	PubMed: Brownstein et al., 2014	proband - homozygous for semi-dominant mutation	F	-	Palestine	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163082	-	PubMed: Brownstein et al., 2014	relative	M	-	Palestine	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163083	-	PubMed: Brownstein et al., 2014	relative	F	-	Palestine	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163084	-	PubMed: Brownstein et al., 2014	relative	M	-	Palestine	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163085	-	PubMed: Brownstein et al., 2014	relative	M	-	Palestine	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163086	-	PubMed: Melchionda et al., 2001	proband	M	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163087	-	PubMed: Melchionda et al., 2001	relative	F	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163088	-	PubMed: Melchionda et al., 2001	relative	M	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163089	-	PubMed: Melchionda et al., 2001	relative	F	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163090	-	PubMed: Melchionda et al., 2001	relative	F	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163091	-	PubMed: Melchionda et al., 2001	relative	F	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163092	-	PubMed: Melchionda et al., 2001	relative	M	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163093	-	PubMed: Melchionda et al., 2001	relative	F	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163094	-	PubMed: Melchionda et al., 2001	relative	F	-	Italy	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163095	-	PubMed: Miyagawa et al., 2013	proband	F	-	Japan	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163096	-	PubMed: Miyagawa et al., 2013	relative	M	-	Japan	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163097	-	PubMed: Miyagawa et al., 2013	relative	M	-	Japan	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163098	Fam2	PubMed: Hilgert 2008	proband, 6-generation family, 17 affected (9F, 8M)	F	-	Belgium	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	17	Anne-Françoise Roux
00163099	Fam2	PubMed: Hilgert 2008	relative	F	-	Belgium	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163100	-	PubMed: Kwon et al., 2014	proband	M	-	Korea	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163101	-	PubMed: Sanggaard et al., 2008	relative	M	-	Denmark	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163102	-	PubMed: Sanggaard et al., 2008	relative	F	-	Denmark	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163103	-	PubMed: Kwon et al., 2014	proband	F	-	Korea	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163106	-	PubMed: Cheng et al., 2014	proband	F	-	China	-	-	-	-	-	DFNA1	Mild to moderate	MYO6	MYO6	1	1	Anne-Françoise Roux
00163107	-	PubMed: Cheng et al., 2014	relative	M	-	China	-	-	-	-	-	DFNA1	Mild and COCH mutation	MYO6	MYO6	1	1	Anne-Françoise Roux
00163108	-	PubMed: Cheng et al., 2014	relative	M	-	China	-	-	-	-	-	DFNA1	Moderate and COCH mutation	MYO6	MYO6	1	1	Anne-Françoise Roux
00163109	-	PubMed: Cheng et al., 2014	relative	F	-	China	-	-	-	-	-	DFNA1	Moderate	MYO6	MYO6	1	1	Anne-Françoise Roux
00163110	-	PubMed: Yang et al., 2013	proband	F	-	China	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163111	-	PubMed: Yang et al., 2013	relative	F	-	China	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163112	-	PubMed: Yang et al., 2013	relative	F	-	China	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163113	-	PubMed: Yang et al., 2013	relative	M	-	China	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163114	-	PubMed: Yang et al., 2013	relative	M	-	China	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163115	-	PubMed: Kwon et al., 2014	proband	F	-	Korea	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163121	-	PubMed: Oonk et al., 2013	proband	F	-	Netherlands	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163122	-	PubMed: Oonk et al., 2013	relative	F	-	Netherlands	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163123	-	PubMed: Oonk et al., 2013	relative	F	-	Netherlands	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163124	-	PubMed: Oonk et al., 2013	relative	M	-	Netherlands	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163125	-	PubMed: Oonk et al., 2013	relative	F	-	Netherlands	-	-	-	-	-	DFNA1	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163189	-	PubMed: Platinga et al., 2006	proband	M	-	Netherlands	-	-	-	-	-	DFNA1	-	TECTA	TECTA	2	1	Anne-Françoise Roux
00163192	-	PubMed: Hildebrand et al., 2011	proband	F	-	United States	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163193	-	PubMed: Hildebrand et al., 2011	proband	F	-	Spain	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163196	-	-	-	-	-	Korea	Mongolian	-	-	-	-	DFNA1	high frequency hearing loss	TECTA	TECTA	1	1	Byung Yoon Choi
00163197	-	PubMed: Sagong et al., 2010	proband	-	-	Korea	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163199	-	PubMed: Hildebrand et al., 2011	proband	-	-	United States	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163200	-	PubMed: Hildebrand et al., 2011	proband - U-shaped deafness associated to an AD family pattern - No other mutation identified - An affected relative does not carry the mutation	M	-	Spain	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163201	-	PubMed: Hildebrand et al., 2011	proband	M	-	Belgium	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163202	-	PubMed: Hildebrand et al., 2011	proband	-	-	United States	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163203	-	PubMed: Hildebrand et al., 2011	proband	-	-	United States	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163204	-	PubMed: Hildebrand et al., 2011	proband	M	-	United Kingdom (Great Britain)	-	-	-	-	-	DFNA1	-	TECTA	TECTA	2	1	Anne-Françoise Roux
00163207	-	PubMed: Hildebrand et al., 2011	proband	F	-	Spain	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163208	-	PubMed: Hildebrand et al., 2011	proband	F	-	Spain	-	-	-	-	-	DFNA1	-	TECTA	TECTA	1	1	Anne-Françoise Roux

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Global Variome shared LOVD

FOXI1 (forkhead box I1)