Disease #00531 (DFNB;ARNSHL (deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))))

Official abbreviation	DFNB;ARNSHL
Name	deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))
OMIM ID	-
Inheritance	-
Individuals reported having this disease	101
Phenotype entries for this disease	36
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-21 11:25:16 +02:00 (CEST)
Date last edited	2015-12-08 23:59:30 +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.

How to query this table

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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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101 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00019872	-	-	-	-	yes	China	Chinese han	-	-	-	-	DFNB;ARNSHL	-	TMEM132E	TMEM132E	1	1	Qiji Liu
00024124	-	-	4 families, 10 affecteds	-	-	Pakistan	-	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	10	Atteeq Rehman
00024125	-	-	2 families, 7 affecteds	-	-	Pakistan	-	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	7	Atteeq Rehman
00024126	-	-	2 families, 10 affecteds	-	-	(Pakistan)	-	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	10	Atteeq Rehman
00043762	-	PubMed: Lerer 2001, Journal: Lerer 2001	2-generation family, affected daugther (II4), unaffected heterozygous carrier mother (father I1, brother II3)	F	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB;ARNSHL	di-genic inheritance; non-syndromic hearing loss	GJB2, GJB6	GJB2, GJB6	2	3	Johan den Dunnen
00043763	-	PubMed: Lerer 2001, Journal: Lerer 2001	2-generation family, affected son (II4), unaffected heterozygous carrier mother (father I1, sister II4)	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB;ARNSHL	di-genic inheritance; non-syndromic hearing loss	GJB2, GJB6	GJB2, GJB6	2	1	Johan den Dunnen
00043764	-	PubMed: Lerer 2001, Journal: Lerer 2001	2-generation family, affected father (I1), affected son (II3) and daugther (II4)	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	2	1	Johan den Dunnen
00059043	-	Karen Avraham laboratory, Tel Aviv university, Israel, unpublished	-	-	no	Israel	Arab	-	-	-	-	DFNB;ARNSHL	Congenital, profound, non-syndromic HL	-	SLC26A4	1	2	Zippi Brownstein
00059044	-	Karen Avraham laboratory, Tel Aviv university, Israel, unpublished	-	-	yes	Israel	Beduim	-	-	-	-	DFNB;ARNSHL	Congenital, moderate to severe hearing loss, Pendred	-	SLC26A4	1	3	Zippi Brownstein
00059052	-	-	-	-	yes	Israel	Iran;Jewish	-	-	-	-	DFNB;ARNSHL	teenage onset, mild to moderate NSHL	-	CEACAM16	1	1	Zippi Brownstein
00059053	-	Karen Avraham laboratory, Tel Aviv university, Israel, unpublished	-	-	no	Israel	Iran;Jewish	-	-	-	-	DFNB;ARNSHL	mild to moderate NSHL, teenage onset	-	CEACAM16	1	3	Zippi Brownstein
00059130	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	ACTG1	ACTG1	1	1	Manou Sommen
00059132	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	CCDC50, MYO15A	CCDC50, MYO15A	2	1	Manou Sommen
00059133	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	CDH23	CDH23	1	1	Manou Sommen
00059135	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	CABP2	CABP2	1	1	Manou Sommen
00059136	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL11A2, MYO1A	COL11A2, MYO1A	2	1	Manou Sommen
00059137	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL11A2	COL11A2	1	1	Manou Sommen
00059138	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	DFNA5	DFNA5	1	1	Manou Sommen
00059139	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	DFNB31	DFNB31	1	1	Manou Sommen
00059140	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	DIAPH1, STRC	DIAPH1, STRC	3	1	Manou Sommen
00059141	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	DFNA5, DIAPH3	DFNA5, DIAPH3	2	1	Manou Sommen
00059143	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	EYA4	EYA4	1	1	Manou Sommen
00059144	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Manou Sommen
00059145	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	GJB6	GJB6	1	1	Manou Sommen
00059146	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	DIAPH3, GPR98	DIAPH3, GPR98	3	1	Manou Sommen
00059147	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	GPR98	GPR98	2	1	Manou Sommen
00059148	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	GPR98	GPR98	2	1	Manou Sommen
00059149	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	KCNQ4	KCNQ4	1	1	Manou Sommen
00059150	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	LOXHD1, WFS1	LOXHD1, WFS1	3	1	Manou Sommen
00059151	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYH14	MYH14	2	1	Manou Sommen
00059152	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYH14	MYH14	1	1	Manou Sommen
00059153	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYH14	MYH14	1	1	Manou Sommen
00059154	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	DIABLO, MYH9, TPRN	DIABLO, MYH9, TPRN	3	1	Manou Sommen
00059155	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYH9, MYO15A	MYH9, MYO15A	2	1	Manou Sommen
00059156	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO15A	MYO15A	3	1	Manou Sommen
00059157	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO15A	MYO15A	3	1	Manou Sommen
00059158	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO15A, MYO7A	MYO15A, MYO7A	2	1	Manou Sommen
00059159	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	CDH23, MYO15A	CDH23, MYO15A	3	1	Manou Sommen
00059160	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO15A	MYO15A	3	1	Manou Sommen
00059161	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO1A, USH2A	MYO1A, USH2A	2	1	Manou Sommen
00059162	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO3A	MYO3A	2	1	Manou Sommen
00059163	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO6	MYO6	2	1	Manou Sommen
00059164	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO6, USH2A	MYO6, USH2A	2	1	Manou Sommen
00059165	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO6	MYO6	1	1	Manou Sommen
00059166	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A, SLC17A8, STRC, TRIOBP	MYO7A, SLC17A8, STRC, TRIOBP	7	1	Manou Sommen
00059167	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A, SLC26A4	MYO7A, SLC26A4	3	1	Manou Sommen
00059168	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	2	1	Manou Sommen
00059169	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	2	1	Manou Sommen
00059170	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	1	1	Manou Sommen
00059171	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	1	1	Manou Sommen
00059172	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	1	1	Manou Sommen
00059173	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	2	1	Manou Sommen
00059174	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	MYO7A	MYO7A	1	1	Manou Sommen
00059175	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	OTOA	OTOA	2	1	Manou Sommen
00059176	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	OTOF	OTOF	2	1	Manou Sommen
00059177	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	PCDH15	PCDH15	2	1	Manou Sommen
00059178	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	PDZD7, TRIOBP	PDZD7, TRIOBP	3	1	Manou Sommen
00059181	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	POU4F3	POU4F3	1	1	Manou Sommen
00059182	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	RDX	RDX	2	1	Manou Sommen
00059183	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TECTA	TECTA	1	1	Manou Sommen
00059184	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	SMPX	SMPX	1	1	Manou Sommen
00059185	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TECTA	TECTA	1	1	Manou Sommen
00059186	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	LOXHD1, TECTA	LOXHD1, TECTA	4	1	Manou Sommen
00059187	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TECTA	TECTA	1	1	Manou Sommen
00059188	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	PDZD7, STRC, TECTA, TMC1	PDZD7, STRC, TECTA, TMC1	6	1	Manou Sommen
00059197	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TJP2	TJP2	1	1	Manou Sommen
00059198	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TJP2	TJP2	1	1	Manou Sommen
00059199	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TMC1	TMC1	1	1	Manou Sommen
00059200	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TMC1	TMC1	1	1	Manou Sommen
00059202	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TMC1	TMC1	2	1	Manou Sommen
00059203	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	TRIOBP	TRIOBP	2	1	Manou Sommen
00060266	-	Karen Avraham Laboratory	DFNB4	-	no	Israel	Jewish-Ashkenazi;Egypt;Turkey	-	-	-	-	DFNB;ARNSHL	Congenital, profound NSHL	-	SLC26A4	2	1	Zippi Brownstein
00060267	-	Karen Avraham Laboratory	DFNB4	-	yes	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB;ARNSHL	Congenital, profound NSHL	-	SLC26A4	1	2	Zippi Brownstein
00060268	-	Karen Avraham Laboratory	DFNB4	-	yes	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB;ARNSHL	Congenital, profound NSHL	-	SLC26A4	1	3	Zippi Brownstein
00081426	-	-	family, affected homozygous mother and 3 children, heterozygous unaffected father/child	F	yes	Pakistan	-	-	-	-	-	DFNB;ARNSHL	Autosomal recessive nonsyndromic hearing loss	-	PDZD7	1	4	Polona Le Quesne Stabej
00132289	-	PubMed: Schraders 2010	2-generation family, 2 affected sisters, both children exhibit moderate hearing loss	M	yes	Morocco	Moroccan	-	-	-	-	DFNB;ARNSHL	autosomal recessive bilateral nonsyndromic hearing loss with vestibular dysfunction (symmetric, sensorineural, progressive, likely congenital); electronystagmography in caloric and rotary testing shows impaired vestibular function	PTPRQ	PTPRQ	1	2	Johan den Dunnen
00132290	-	PubMed: Schraders 2010	3-generation family, 2 affected brothers	F	no	Netherlands	Dutch	-	-	-	-	DFNB;ARNSHL	autosomal recessive bilateral nonsyndromic hearing loss with vestibular dysfunction (symmetric, sensorineural, likely congenital, progressing from severe to profound); patients did not develop normal speech, delayed motor development; electronystagmography in caloric and rotary testing shows impaired vestibular function	PTPRQ	PTPRQ	1	2	Johan den Dunnen
00248496	-	-	father and 2 affected daughters	-	-	Japan	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	2	LOVD
00248497	-	-	mother and affected son	-	-	Korea	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	3	LOVD
00248500	-	-	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	6	LOVD
00248502	-	-	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	ALG6, COL9A3, PRKAR1A	2	2	LOVD
00248503	-	-	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	6	LOVD
00248505	-	-	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	2	LOVD
00248506	-	-	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	79	LOVD
00248508	-	-	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	COL9A3	COL9A3	1	2	LOVD
00327006	-	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNB;ARNSHL	-	-	-	-	1	So Young Kim
00391289	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	KCNQ4	KCNQ4	1	1	Johan den Dunnen
00428292	family	PubMed: Dia 2022	-	?	yes	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428293	FamFig1BPatIV2	PubMed: Dia 2022	4-generation family, 5 affected (1F, 4M), unaffected heterozygous carrier parents/relatives	F	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	5	Yacouba Dia
00428294	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	2	1	Yacouba Dia
00428295	FamFig1APatIV2	PubMed: Dia 2022	4-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives	M	yes	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	6	Yacouba Dia
00428296	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428297	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428298	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428299	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428300	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428301	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428302	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428303	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia
00428304	family	PubMed: Dia 2022	-	-	-	(Senegal)	Africa	-	-	-	-	DFNB;ARNSHL	-	GJB2	GJB2	1	1	Yacouba Dia

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Global Variome shared LOVD