Disease #05400 (DFNB (deafness, autosomal recessive (DFNB)))

Official abbreviation	DFNB
Name	deafness, autosomal recessive (DFNB)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	955
Phenotype entries for this disease	951
Associated with 16 genes	CDH23, CIB2, FAM65B, GRXCR1, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, RDX, S1PR2, SERPINB6, STRC, TMC1, USH1C
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2018-02-24 17:20:21 +01:00 (CET)
Date last edited	N/A

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'
$	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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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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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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955 entries on 10 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
00154471	29293958-FamFT1	PubMed: Imtiaz 2018	4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Tunisia	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	5	Johan den Dunnen
00154472	29293958-FamHLRB11	PubMed: Imtiaz 2018	4-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	5	Johan den Dunnen
00154473	29293958-FamHLAI24	PubMed: Imtiaz 2018	4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	4	Johan den Dunnen
00154474	29293958-FamMORL1	PubMed: Imtiaz 2018	5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents	F;M	yes	Iran	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	3	Johan den Dunnen
00154475	29293958-FamMORL2	PubMed: Imtiaz 2018	6-generation family, 3 affected (2F,M), unaffected heterozygous carrier parents	F;M	yes	Iran	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	3	Johan den Dunnen
00154476	29293958-FamHPK1	PubMed: Imtiaz 2018	4-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents	M	yes	Pakistan	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	2	Johan den Dunnen
00154477	29293958-FamPKDF539	PubMed: Imtiaz 2018	6-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	6	Johan den Dunnen
00154478	29293958-FamPKSN10	PubMed: Imtiaz 2018	5-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	DFNB	see paper; ...	CDC14A	CDC14A	1	5	Johan den Dunnen
00155302	E30PatV4	PubMed: Hofrichter 2018	4-generation family, 4 affected (3F, M)	F	yes	Iran	-	-	-	-	-	DFNB	see paper; ...	S1PR2	S1PR2	1	4	Barbara Vona
00155311	26805784-FamDEM4154	PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016	5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	congenital profound hearing impairment, limb malformations, no other abnormalities	S1PR2	GCDH, MUC16, S1PR2, WDR62, ZNF571, ZNF91	6	7	Johan den Dunnen
00155312	26805784-FamPKDF1400	PubMed: Santos-Cortez 2016, Journal: Santos-Cortez 2016	4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	see paper; ...	S1PR2	MUC16, S1PR2	2	5	Johan den Dunnen
00163052	-	PubMed: Ahmed et al., 2003	proband	F	-	Pakistan	-	-	-	-	-	DFNB	Vestibular dysfunction	MYO6	MYO6	1	1	Anne-Françoise Roux
00163053	-	PubMed: Ahmed et al., 2003	relative	M	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163054	-	PubMed: Ahmed et al., 2003	relative	M	-	Pakistan	-	-	-	-	-	DFNB	Mild facial dysmorphology	MYO6	MYO6	1	1	Anne-Françoise Roux
00163055	-	PubMed: Ahmed et al., 2003	relative	M	-	Pakistan	-	-	-	-	-	DFNB	Mild facial dysmorphology	MYO6	MYO6	1	1	Anne-Françoise Roux
00163056	-	PubMed: Ahmed et al., 2003	relative	F	-	Pakistan	-	-	-	-	-	DFNB	RP and vestibular abnormality	MYO6	MYO6	1	1	Anne-Françoise Roux
00163057	-	PubMed: Ahmed et al., 2003	relative	F	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163068	-	PubMed: Ahmed et al., 2003	proband	M	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163069	-	PubMed: Yang et al., 2013	proband	-	-	China	-	-	-	-	-	DFNB	-	MYO6	MYO6	2	1	Anne-Françoise Roux
00163104	-	PubMed: Brownstein et al., 2014	proband	M	-	Palestine	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163105	-	PubMed: Brownstein et al., 2014	relative	F	-	Palestine	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163116	-	PubMed: Ahmed et al., 2003	proband	M	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163117	-	PubMed: Ahmed et al., 2003	relative	F	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163118	-	PubMed: Ahmed et al., 2003	relative	F	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163119	-	PubMed: Ahmed et al., 2003	relative	F	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163120	-	PubMed: Ahmed et al., 2003	relative	F	-	Pakistan	-	-	-	-	-	DFNB	-	MYO6	MYO6	1	1	Anne-Françoise Roux
00163190	-	PubMed: Meyer et al., 2007	proband	F	-	Iran	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163191	S1539	PubMed: Baux 2017	proband	F	-	France	-	-	-	-	-	DFNB	-	TECTA	TECTA	2	1	Anne-Françoise Roux
00163194	-	PubMed: Naz et al., 2003	proband	F	-	Iran	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163195	-	PubMed: Hutchin et al., 2005	proband	-	-	-	-	-	-	-	-	DFNB	-	TECTA	TECTA	3	1	Anne-Françoise Roux
00163198	-	PubMed: Yang et al., 2013	proband	-	-	China	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163205	-	PubMed: Mustapha et al., 1999	proband	F	-	Lebanon	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163206	-	PubMed: Meyer et al., 2007	proband	M	-	Iran	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163224	-	PubMed: Sagong et al., 2011	proband	F	-	Korea	-	-	-	-	-	DFNB	-	TECTA	TECTA	2	1	Anne-Françoise Roux
00163225	-	PubMed: Diaz-Horta et al,.2012	-	-	-	Iran	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163226	-	PubMed: Meyer et al., 2007	proband	M	-	Iran	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163270	-	PubMed: Naz et al., 2003	proband	F	-	Pakistan	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163272	-	PubMed: Alasti et al., 2008	proband	F	-	Iran	-	-	-	-	-	DFNB	-	TECTA	TECTA	1	1	Anne-Françoise Roux
00163314	-	PubMed: Ben-Salem et al., 2014	proband	M	-	United Arab Emirates	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	Anne-Françoise Roux
00163315	-	PubMed: Yang et al., 2013	proband	-	-	China	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	2	1	Anne-Françoise Roux
00163320	-	PubMed: Tlili et al., 2005	proband	M	-	Tunisia	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	5	1	David Baux
00163321	-	PubMed: Tlili et al., 2005	relative	F	-	Tunisia	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	5	1	David Baux
00163322	-	PubMed: Tlili et al., 2005	relative	F	-	Tunisia	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	5	1	David Baux
00163323	-	PubMed: Tlili et al., 2005	relative	F	-	Tunisia	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	5	1	David Baux
00163360	-	PubMed: Mburu et al., 2003	proband	F	-	Jordan	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	David Baux
00163361	-	PubMed: Mburu et al., 2003	relative	M	-	Jordan	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	David Baux
00163362	-	PubMed: Mburu et al., 2003	relative	F	-	Jordan	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	David Baux
00163363	-	PubMed: Mburu et al., 2003	relative	F	-	Jordan	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	David Baux
00163364	-	PubMed: Mburu et al., 2003	relative	M	-	Jordan	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	David Baux
00163365	-	PubMed: Mburu et al., 2003	relative	M	-	Jordan	-	-	-	-	-	DFNB	-	DFNB31	DFNB31	1	1	David Baux
00163378	-	PubMed: Yasunaga 2000	proband	F	-	India	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163379	-	PubMed: Yasunaga 2000	proband	M	-	India	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163380	-	PubMed: Yasunaga 2000	proband	F	-	India	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163382	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	-	OTOF	OTOF	4	1	Anne-Françoise Roux
00163385	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	4	1	Anne-Françoise Roux
00163386	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	2	1	Anne-Françoise Roux
00163387	-	PubMed: Wang 2011	no genotype in the publication	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163389	-	PubMed: Wang 2010	proband	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163390	-	PubMed: Wang 2011	no genotype in the publication	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163391	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level:profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163392	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	2	1	Anne-Françoise Roux
00163395	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: severe	OTOF	OTOF	1	1	Anne-Françoise Roux
00163397	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163407	-	PubMed: Wang 2010	proband	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163413	-	PubMed: Mahdieh 2012	-	-	-	Iran	-	-	-	-	-	DFNB	profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163418	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: profound	OTOF	OTOF	2	1	Anne-Françoise Roux
00163419	-	PubMed: Wang 2011	no genotype in the publication	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163420	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163421	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: severe	OTOF	OTOF	1	1	Anne-Françoise Roux
00163422	S1529	PubMed: Baux 2017	proband	M	-	France	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163424	S1777	PubMed: Baux 2017	proband	M	-	France	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163425	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	3	1	Anne-Françoise Roux
00163426	-	PubMed: De Keulenaer 2012	proband	-	-	Belgium	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163429	S1672	PubMed: Baux 2017	proband	F	-	France	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163433	-	PubMed: Rouillon 2006	proband	-	-	France	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163434	-	PubMed: Rouillon 2006	proband	-	-	France	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163467	-	PubMed: Wang 2010	proband	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163469	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163472	-	PubMed: Wang 2011	no genotype in the publication	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163473	-	PubMed: Wang 2011	no genotype in the publication	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163474	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level	OTOF	OTOF	1	1	Anne-Françoise Roux
00163475	-	PubMed: Shahin 2009	proband	M	-	Palestine	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163476	-	PubMed: Shahin 2009	proband	F	-	Palestine	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163478	-	PubMed: Yang 2013	proband	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	2	1	Anne-Françoise Roux
00163482	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: profound	OTOF	OTOF	2	1	Anne-Françoise Roux
00163484	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	3	1	Anne-Françoise Roux
00163485	-	PubMed: Wang 2011	no genotype in the publication	-	-	China	-	-	-	-	-	DFNB	-	OTOF	OTOF	1	1	Anne-Françoise Roux
00163486	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163487	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163489	-	PubMed: Iwasa 2013	-	-	-	Japan	-	-	-	-	-	DFNB	hearing loss level: profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163501	-	PubMed: Choi 2008	-	-	-	Pakistan	-	-	-	-	-	DFNB	severe-profound	OTOF	OTOF	1	1	Anne-Françoise Roux
00163512	-	PubMed: Kalay et al., 2007	proband	F	-	Turkey	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	12	1	Anne-Françoise Roux
00163514	-	PubMed: Brownstein et al., 2011	proband	M	-	Israel	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux
00163515	-	PubMed: Brownstein et al., 2011	relative	M	-	-	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux
00163516	-	PubMed: Vozzi 2014	proband	M	-	Qatar	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	1	1	Anne-Françoise Roux
00163518	-	PubMed: Duman et al., 2011	proband	-	-	Turkey	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	1	1	Anne-Françoise Roux
00163519	-	PubMed: Vona et al., 2014	proband	M	-	Germany	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux
00163520	-	PubMed: Miyagawa et al., 2013	proband	M	-	Japan	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux
00163521	HLRB3	PubMed: Bashir 2012, PubMed: Naz 2017	family, 3 affected	F	-	Pakistan	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	1	3	Anne-Françoise Roux
00163522	-	PubMed: Miyagawa et al., 2013	proband	M	-	Japan	-	-	-	-	-	DFNB	-	MYO15A	MYO15A	2	1	Anne-Françoise Roux

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Global Variome shared LOVD

PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase,...)