Disease #02098 (PDS;TDH2B (Pendred syndrome (PDS, Thyroid dyshormonogenesis 2B)), OMIM:274600)

Official abbreviation	PDS;TDH2B
Name	Pendred syndrome (PDS, Thyroid dyshormonogenesis 2B)
OMIM ID	274600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	97
Phenotype entries for this disease	97
Associated with 1 gene	SLC26A4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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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97 entries on 1 page. Showing entries 1 - 97.

Legend

How to query

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
00167285	-	PubMed: Yazdanpanahil 2013	Relative	M	-	Iran	-	-	-	-	-	PDS;TDH2B	Profound HL,EVA,Mondini dysplasia,euthyroid multinodular goiter	-	SLC26A4	2	1	Anne-Françoise Roux
00167286	-	PubMed: Yazdanpanahil 2013	Relative	M	-	Iran	-	-	-	-	-	PDS;TDH2B	No Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167287	-	PubMed: Yazdanpanahil 2013	Relative	M	-	Iran	-	-	-	-	-	PDS;TDH2B	No Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167288	-	PubMed: Yazdanpanahil 2013	Relative	F	-	Iran	-	-	-	-	-	PDS;TDH2B	No mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167289	-	PubMed: Yazdanpanahil 2013	Relative	M	-	Iran	-	-	-	-	-	PDS;TDH2B	No detailed informations concerning the phenotype in this case.	-	SLC26A4	2	1	Anne-Françoise Roux
00167290	-	PubMed: Yazdanpanahil 2013	Proband	M	-	Iran	-	-	-	-	-	PDS;TDH2B	Profound HL,EVA,Mondini dysplasia, euthyroid multinodular goiter	-	SLC26A4	2	1	Anne-Françoise Roux
00167291	-	PubMed: Yazdanpanahil 2013	Relative	F	-	Iran	-	-	-	-	-	PDS;TDH2B	Sever HL,euthyroid multinodular goiter,vestibular aqueduct examination not done.	-	SLC26A4	2	1	Anne-Françoise Roux
00167292	-	PubMed: Yazdanpanahil 2013	Relative	F	-	Iran	-	-	-	-	-	PDS;TDH2B	Moderate HL,EVA,No goiter(age 8 years old)	-	SLC26A4	2	1	Anne-Françoise Roux
00167294	-	PubMed: Ben Said 2012	Proband - presence of a goiter	M	-	Tunisia	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167295	-	PubMed: Ben Said 2012	Relative - Presence of a goiter	F	-	Tunisia	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167307	-	PubMed: Ben Said 2012	Relative - no goiter, EVA and Profound HL at age 19	M	-	Tunisia	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167308	-	PubMed: Ben Said 2012	Relative - no goiter, EVA and profound HL at age 8.	M	-	Tunisia	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167309	-	PubMed: Ben Said 2012	Relative - no goiter,profound HL, CT SCAN not done.	F	-	Tunisia	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167310	-	PubMed: Yazdanpanahil 2013	Relative	M	-	Iran	-	-	-	-	-	PDS;TDH2B	Vestibular aqueduct examination not performed.	-	SLC26A4	2	1	Anne-Françoise Roux
00167311	-	PubMed: Huang CJ 2013	Proband	F	-	China	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167413	-	PubMed: Jiang H 2012	Proband	F	-	China	-	-	-	-	-	PDS;TDH2B	Hypothyroid goiter.	-	SLC26A4	2	1	Anne-Françoise Roux
00167414	-	PubMed: Lai CC 2007	Proband	M	-	China	-	-	-	-	-	PDS;TDH2B	No thyroid abnormalities (age 17y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167415	-	PubMed: Lai CC 2007	Relative	F	-	China	-	-	-	-	-	PDS;TDH2B	Positive PDT,high anti-TPO antibodies,No goiter (age 12y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167416	-	PubMed: Lai CC 2007	Relative	M	-	China	-	-	-	-	-	PDS;TDH2B	No thyroid abnormalities (Age 42y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167417	-	PubMed: Lai CC 2007	Relative	F	-	China	-	-	-	-	-	PDS;TDH2B	Goiter,positive PDT,high anti-TPO antibodies	-	SLC26A4	2	1	Anne-Françoise Roux
00167418	-	PubMed: Lai CC 2007	Proband	M	-	China	-	-	-	-	-	PDS;TDH2B	No thyroid abnormalities (age 27y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167419	-	PubMed: Lai CC 2007	Proband	M	-	China	-	-	-	-	-	PDS;TDH2B	High serum thyroglobulin (Tg) level, No goiter (age 12y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167420	-	PubMed: Lai CC 2007	Proband	M	-	China	-	-	-	-	-	PDS;TDH2B	No thyroid abnormalities (age 14y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167421	-	PubMed: Lai CC 2007	Proband	F	-	China	-	-	-	-	-	PDS;TDH2B	Goiter, high serum thyroglobulin (Tg) level	-	SLC26A4	2	1	Anne-Françoise Roux
00167422	-	PubMed: Lai CC 2007	Proband	M	-	China	-	-	-	-	-	PDS;TDH2B	No thyroid abnormalities (age 12y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167423	-	PubMed: Chen J 2012	Proband	M	-	China	-	-	-	-	-	PDS;TDH2B	Post-lingual (started at age of 10y), progressive hearing loss.	-	SLC26A4	2	1	Anne-Françoise Roux
00167424	-	PubMed: Chen J 2012	Relative	M	-	China	-	-	-	-	-	PDS;TDH2B	No goiter (age 21y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167425	-	PubMed: López-Bigas N 2002	Proband	-	-	Italy	-	-	-	-	-	PDS;TDH2B	Hypothyroidism, radiological examination of vestibular aqueduct is not available.	-	SLC26A4	2	1	Anne-Françoise Roux
00167426	-	PubMed: López-Bigas N 2002	Proband	-	-	Italy	-	-	-	-	-	PDS;TDH2B	Hypothyroidism,radiological examination of vestibular aqueduct is not available	-	SLC26A4	2	1	Anne-Françoise Roux
00167427	-	PubMed: López-Bigas N 2002	Proband	-	-	Italy	-	-	-	-	-	PDS;TDH2B	No goiter, age and radiological examination of vestibular aqueduct are not available.	-	SLC26A4	2	1	Anne-Françoise Roux
00167428	-	PubMed: López-Bigas N 2002	Proband	-	-	Italy	-	-	-	-	-	PDS;TDH2B	Radiological examination of vestibular aqueduct is not available	-	SLC26A4	2	1	Anne-Françoise Roux
00167429	-	PubMed: López-Bigas N 2002	Proband	-	-	Italy	-	-	-	-	-	PDS;TDH2B	No goiter, age and radiological examination of vestibular aqueduct are not available	-	SLC26A4	2	1	Anne-Françoise Roux
00167430	-	PubMed: López-Bigas N 2002	Proband	-	-	Spain	-	-	-	-	-	PDS;TDH2B	Radiological examination of vestibular aqueduct is not available	-	SLC26A4	2	1	Anne-Françoise Roux
00167431	-	PubMed: Yang JJ 2005	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167432	-	PubMed: Yang JJ 2005	Relative	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167433	-	PubMed: Yang JJ 2005	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167434	-	PubMed: Yang JJ 2005	Relative	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167435	-	PubMed: Yang JJ 2005	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	1	1	Anne-Françoise Roux
00167436	-	PubMed: Huang S 2011	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167437	-	PubMed: Yang JJ 2005	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	1	1	Anne-Françoise Roux
00167438	-	PubMed: Yang JJ 2005	Relative	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	1	1	Anne-Françoise Roux
00167439	-	PubMed: Yang JJ 2005	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	2	1	Anne-Françoise Roux
00167440	-	PubMed: Yang JJ 2005	Proband	-	-	Taiwan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	-	SLC26A4	1	1	Anne-Françoise Roux
00167461	-	PubMed: C.Campbell 2001	Proband	-	-	United States	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167473	-	PubMed: C.Campbell 2001	Proband	-	-	United States	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, abnormal malleus	-	SLC26A4	2	1	Anne-Françoise Roux
00167475	-	PubMed: C.Campbell 2001	Proband	-	-	United States	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167477	-	PubMed: C.Campbell 2001	Proband	-	-	United States	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167486	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167487	-	PubMed: K.Tsukamoto 2003	Relative (Brother)	M	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167492	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167497	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167513	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167516	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167517	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167518	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167520	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167521	-	PubMed: K.Tsukamoto 2003	Proband	-	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167529	-	PubMed: L.Fugazzola 2007	Proband, high intrafamilial phenotypic variability.	F	-	Italy	-	-	-	-	-	PDS;TDH2B	Mild hypothyroidism, bilateral renal atrophy, PDT positive, Age 45 years old	-	SLC26A4	2	1	Anne-Françoise Roux
00167530	-	PubMed: L.Fugazzola 2007	Relative (Brother), high intrafamilial phenotypic variability	M	-	Italy	-	-	-	-	-	PDS;TDH2B	Hypothyroidism, No goiter, PDT positive, low IQ, language disturbances, Age 44 years old	-	SLC26A4	2	1	Anne-Françoise Roux
00167531	-	PubMed: L.Fugazzola 2007	Relative (Brother), high intrafamilial phenotypic variability.	M	-	Italy	-	-	-	-	-	PDS;TDH2B	Subclinical hypothyroidism, DPT positive, Age 42 years old	-	SLC26A4	2	1	Anne-Françoise Roux
00167533	-	PubMed: Huang S 2011	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167534	-	PubMed: A. Ganaha 2013	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167535	-	PubMed: A. Ganaha 2013	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	Vertigo	-	SLC26A4	2	1	Anne-Françoise Roux
00167536	-	PubMed: A. Ganaha 2013	Proband	M	-	Japan	-	-	-	-	-	PDS;TDH2B	Vertigo, Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167537	-	PubMed: A. Ganaha 2013	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	Vertigo, Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167541	-	PubMed: A. Ganaha 2013	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167549	-	PubMed: A. Ganaha 2013	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia	-	SLC26A4	2	1	Anne-Françoise Roux
00167550	-	PubMed: A. Ganaha 2013	Proband	F	-	Japan	-	-	-	-	-	PDS;TDH2B	-	-	SLC26A4	2	1	Anne-Françoise Roux
00167552	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, hypothyroidism, cochlear dysplasia, PDT positive.	-	SLC26A4	2	1	Anne-Françoise Roux
00167553	-	PubMed: M.Ladsous 2014	Relative	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, hypothyroidism, PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167554	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, hypothyroidism, PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167555	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, congenital hypothyroidism, PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167556	-	PubMed: M.Ladsous 2014	Relative	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, hypothyroidism, PDT positive, high thyroglobulin	-	SLC26A4	2	1	Anne-Françoise Roux
00167557	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Cochlear dysplasia, congenital hypothyroidism, PDT positive, No goiter, high thyroglobulin	-	SLC26A4	2	1	Anne-Françoise Roux
00167558	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Cochlear dysplasia, congenital hypothyroidism, PDT positive, high thyroglobulin	-	SLC26A4	2	1	Anne-Françoise Roux
00167559	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Cochlear dysplasia, nodular goiter, congenital hypothyroidism, high thyroglobulin, PDT negatine	-	SLC26A4	2	1	Anne-Françoise Roux
00167560	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, congenital hypothyroidism, PDT not done	-	SLC26A4	2	1	Anne-Françoise Roux
00167561	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular thyroid, subclinical hypothyroidism, PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167562	-	PubMed: M.Ladsous 2014	Relative	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, hypothyroidism, PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167563	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Hypothyroidism, PDT not done	-	SLC26A4	2	1	Anne-Françoise Roux
00167564	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Cochlear dysplasia, congenital hypothyroidism, No goiter, PDT negative, high thyroglobulin	-	SLC26A4	2	1	Anne-Françoise Roux
00167565	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Cochlear hypoplasia, nodular goiter, hypothyroidism, high thyroglobulin, PDT negative	-	SLC26A4	2	1	Anne-Françoise Roux
00167566	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Nodular euthyeoid goiter, high thyroglobulin, PDT negative	-	SLC26A4	2	1	Anne-Françoise Roux
00167567	-	PubMed: M.Ladsous 2014	Relative	F	-	France	-	-	-	-	-	PDS;TDH2B	Papillary microcarcinoma, No goiter, euthyroid, PDT not done	-	SLC26A4	2	1	Anne-Françoise Roux
00167568	-	PubMed: M.Ladsous 2014	Relative	F	-	France	-	-	-	-	-	PDS;TDH2B	Nodular euthyroid goiter, PDT not done	-	SLC26A4	2	1	Anne-Françoise Roux
00167569	-	PubMed: M.Ladsous 2014	Proband	M	-	France	-	-	-	-	-	PDS;TDH2B	Nodular goiter, hypothyroidism, high thuroglobulin, PDT negative	-	SLC26A4	2	1	Anne-Françoise Roux
00167570	-	PubMed: M.Ladsous 2014	Proband	F	-	France	-	-	-	-	-	PDS;TDH2B	Cochlear dysplasia, nodular euthyroid goiter, PDT positive, high thyroglobulin	-	SLC26A4	2	1	Anne-Françoise Roux
00167586	-	PubMed: B.Choi 2009	Proband	F	-	United States	-	-	-	-	-	PDS;TDH2B	PDT negative	-	SLC26A4	1	1	Anne-Françoise Roux
00167588	-	PubMed: B.Choi 2009	Proband	M	-	United States	-	-	-	-	-	PDS;TDH2B	PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167604	-	PubMed: B.Choi 2009	Proband	F	-	United States	-	-	-	-	-	PDS;TDH2B	PDT negative	-	SLC26A4	2	1	Anne-Françoise Roux
00167606	-	PubMed: K.Sakurai 2013	Proband	M	-	Japan	-	-	-	-	-	PDS;TDH2B	Follicular variant of papillary thyroid carcinoma, hypothyroidism, high thyroglobulin.	-	SLC26A4	2	1	Anne-Françoise Roux
00167607	-	PubMed: K.Sakurai 2013	Relative (Identical twin)	M	-	Japan	-	-	-	-	-	PDS;TDH2B	Euthyroid multinodular goiter,high thyroglobulin	-	SLC26A4	2	1	Anne-Françoise Roux
00167615	-	PubMed: A.Pera 2008	Proband	F	-	Spain	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, hyperthyroidism	-	SLC26A4	2	1	Anne-Françoise Roux
00167616	-	PubMed: A.Pera 2008	Relative	M	-	Spain	-	-	-	-	-	PDS;TDH2B	Mondini dysplasia, hyperthyroidism	-	SLC26A4	2	1	Anne-Françoise Roux
00167617	-	PubMed: A.Pera 2008	Proband	M	-	Spain	-	-	-	-	-	PDS;TDH2B	Hyperthroidism	-	SLC26A4	2	1	Anne-Françoise Roux
00167618	-	PubMed: A.Pera 2008	Relative	M	-	Spain	-	-	-	-	-	PDS;TDH2B	Hyperthyroidism, PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux
00167619	-	PubMed: A.Pera 2008	Proband	F	-	Spain	-	-	-	-	-	PDS;TDH2B	PDT positive	-	SLC26A4	2	1	Anne-Françoise Roux

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Global Variome shared LOVD