All individuals with variants in gene CDH23

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.

839 entries on 9 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9		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
00000007	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000033	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000067	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000068	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000075	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000078	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000079	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000080	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000081	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00003000	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?, MD	bowlshaped hearing loss	2	1	Marcel Nelen
00059022	-	Hereditary Research Lab, Bethlehem Univ, unpublished data	-	F	yes	Palestine	Arab	-	-	-	-	DFNB12	congenital severe hearing loss	1	2	Mary-Claire King
00059133	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00059159	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00060241	-	PubMed: Brownstein 2011, Journal: Brownstein 2011	3-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs	F;M	no	Israel	Algeria;Jewish	-	-	-	-	DFNB12	Congenital, profound NSHL	1	9	Zippi Brownstein
00060242	-	PubMed: Brownstein 2011, Journal: Brownstein 2011	2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sib	F;M	yes	Israel	Algeria;Jewish	-	-	-	-	DFNB12	Congenital profound NSHL	1	2	Zippi Brownstein
00080023	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	2	1	Mieke Wesdorp
00080027	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	2	1	Mieke Wesdorp
00080037	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	2	1	Mieke Wesdorp
00081084	-	PubMed: Trujillano 2017	unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	DFNB12	Deafness, autosomal recessive 12 (OMIM:601386)	1	1	Daniel Trujillano
00081324	-	-	-	F	no	Korea, South (Republic)	Korean	-	-	-	-	HL	-	2	1	Bong Jik Kim
00081326	-	PubMed: Kim 2015	2-generation family, 1 affected, unaffected parents	F	no	Korea	-	-	-	-	-	HL	-	2	1	Bong Jik Kim
00081400	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	1	1	Chris Kay
00081401	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	1	1	Chris Kay
00144156	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00165702	-	PubMed: Aparisi 2014	Proband	M	-	Spain	-	-	-	-	-	USH2	-	1	1	Jose Maria Millan
00165703	-	PubMed: Aparisi 2014	Proband	M	-	Spain	-	-	-	-	-	USH1	-	1	1	Jose Maria Millan
00165704	-	-	Proband	M	-	France	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165705	-	PubMed: Bolz 2001	Proband	M	-	Cuba	-	-	-	-	-	USH	-	2	1	Anne-Françoise Roux
00165706	-	PubMed: Bolz 2001	Relative	M	-	Cuba	-	-	-	-	-	USH	-	2	1	Anne-Françoise Roux
00165707	-	PubMed: Bolz 2001	Proband	M	-	Cuba	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165708	-	PubMed: Bolz 2001	Relative	F	-	Cuba	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165709	-	PubMed: Bolz 2001	Proband	M	-	Cuba	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165710	-	PubMed: Bolz 2001	Relative	M	-	Cuba	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165711	-	PubMed: Bolz 2001	Relative	F	-	Cuba	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165712	-	PubMed: Bolz 2001	Proband	M	-	Germany	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165713	-	PubMed: von Brederlow 2002	Proband	M	-	-	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165714	-	PubMed: von Brederlow 2002	Relative	M	-	-	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165715	-	PubMed: von Brederlow 2002	Relative	M	-	-	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165716	-	PubMed: von Brederlow 2002	Proband	M	-	-	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165717	-	PubMed: von Brederlow 2002	Relative	M	-	-	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165718	-	PubMed: von Brederlow 2002	Proband	F	-	-	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165719	-	PubMed: von Brederlow 2002	Proband	F	-	-	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165720	-	PubMed: von Brederlow 2002	Proband	-	-	-	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165721	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	-	-	-	USH1	-	16	1	Anne-Françoise Roux
00165722	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	-	-	-	USH1	-	12	1	Anne-Françoise Roux
00165723	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	-	-	-	USH1	-	10	1	Anne-Françoise Roux
00165724	-	PubMed: Roux 2006	Proband	M	-	France	-	-	-	-	-	USH1	-	34	1	Anne-Françoise Roux
00165725	-	PubMed: Roux 2011	Proband	F	-	France	-	-	-	-	-	USH1	-	14	1	Anne-Françoise Roux
00165726	-	PubMed: Roux 2006	Proband	F	-	France	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165727	-	PubMed: Roux 2006	Relative	F	-	France	-	-	-	-	-	USH1	-	19	1	Anne-Françoise Roux
00165728	-	PubMed: Roux 2006	Proband	M	-	France	-	-	-	-	-	USH1	-	24	1	Anne-Françoise Roux
00165729	-	PubMed: Baux 2008	Proband	F	-	France	-	-	-	-	-	USH1	-	21	1	Anne-Françoise Roux
00165730	-	PubMed: Roux 2006	Proband	F	-	France	-	-	-	-	-	USH1	-	10	1	Anne-Françoise Roux
00165731	-	PubMed: Roux 2006	Proband	F	-	France	-	-	-	-	-	USH1	-	14	1	Anne-Françoise Roux
00165732	-	PubMed: Roux 2006	Proband	F	-	France	-	-	-	-	-	USH1	-	20	1	Anne-Françoise Roux
00165733	-	PubMed: Baux 2008	Proband	F	-	France	-	-	-	-	-	USH1	-	34	1	Anne-Françoise Roux
00165734	-	PubMed: Roux 2011	Proband	F	-	France	-	-	-	-	-	USH1	-	35	1	Anne-Françoise Roux
00165735	-	PubMed: Baux 2008	Proband	F	-	Guinea	-	-	-	-	-	USH1	-	60	1	Anne-Françoise Roux
00165736	-	PubMed: Roux 2011	Proband	M	-	France	-	-	-	-	-	USH1	-	35	1	Anne-Françoise Roux
00165737	-	PubMed: Roux 2011	Proband	M	-	France	-	-	-	-	-	USH1	-	27	1	Anne-Françoise Roux
00165738	-	PubMed: Oshima 2008	Proband	-	-	Sweden	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165739	-	PubMed: Oshima 2008	Proband	-	-	Sweden	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165740	-	PubMed: Oshima 2008	Proband	-	-	Sweden	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165741	-	PubMed: Oshima 2008	Proband	-	-	United States	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165742	-	PubMed: Oshima 2008	Proband	-	-	United States	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165743	-	PubMed: Oshima 2008	Proband	-	-	United States	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165744	-	PubMed: Oshima 2008	Proband	-	-	United States	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165745	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165746	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165747	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165748	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165749	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165750	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165751	-	PubMed: Oshima 2008	Proband - Minigene and Nasal cell studies in Aparisi et al., 2013	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165752	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165753	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165754	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165755	-	PubMed: Oshima 2008	Proband	-	-	Spain	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165756	-	PubMed: Wagatsuma 2007	Proband - referenced as patient #2806 in Miyagawa et al., 2012	F	-	Japan	-	-	-	-	-	DFNB	severe HL	2	1	Anne-Françoise Roux
00165757	-	PubMed: Wagatsuma 2007	Proband - referenced as patient #2714 in Miyagawa et al., 2012	M	-	Japan	-	-	-	-	-	DFNB	profound HL	2	1	Anne-Françoise Roux
00165758	-	PubMed: Wagatsuma 2007	Proband - referenced as patient #2886 in Miyagawa et al., 2012	M	-	Japan	-	-	-	-	-	DFNB	profound HL	2	1	Anne-Françoise Roux
00165759	-	PubMed: Wagatsuma 2007	Relative - referenced as patient #2885 in Miyagawa et al., 2012	M	-	Japan	-	-	-	-	-	DFNB	profound HL	2	1	Anne-Françoise Roux
00165760	-	PubMed: Wagatsuma 2007	Proband - referenced as patient #2826 in Miyagawa et al., 2012	M	-	Japan	-	-	-	-	-	DFNB	profound HL	2	1	Anne-Françoise Roux
00165761	-	PubMed: Wagatsuma 2007	Proband - referenced as patient #2618 in Miyagawa et al., 2012	F	-	Japan	-	-	-	-	-	DFNB	moderate HL	2	1	Anne-Françoise Roux
00165762	-	PubMed: de Brouwer 2003	Proband	M	-	-	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165763	-	PubMed: de Brouwer 2003	Relative	M	-	-	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165764	-	PubMed: de Brouwer 2003	Proband	F	-	-	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165765	-	PubMed: de Brouwer 2003	Relative	F	-	-	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165766	-	PubMed: Pennings 2006	Proband	-	-	Netherlands	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165767	-	PubMed: Pennings 2004	Proband	F	-	Netherlands	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165768	-	PubMed: Pennings 2004	Relative	M	-	Netherlands	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165769	-	PubMed: Pennings 2004	Relative	F	-	Netherlands	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165770	-	PubMed: Pennings 2004	Proband	M	-	Netherlands	-	-	-	-	-	USH1	-	1	1	Anne-Françoise Roux
00165771	-	PubMed: Pennings 2004	Proband	M	-	Netherlands	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165772	-	PubMed: Pennings 2004	Relative	F	-	Netherlands	-	-	-	-	-	USH1	-	2	1	Anne-Françoise Roux
00165773	-	PubMed: Pennings 2004	Proband	M	-	Netherlands	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165774	-	PubMed: Pennings 2004	Proband	F	-	Netherlands	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165775	-	PubMed: Pennings 2004	Relative	F	-	Netherlands	-	-	-	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165776	-	PubMed: Jaijo 2010	Proband	-	-	Spain	-	-	-	-	-	USH1	-	1	1	Jose Maria Millan

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Global Variome shared LOVD

CDH23 (cadherin-related 23)