Global Variome shared LOVD
SOX10 (SRY (sex determining region Y)-box 10)
LOVD v.3.0 Build 30b [
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Curator:
Veronique Pingault
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All individuals with variants in gene SOX10
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.
142 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00080009
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Mieke Wesdorp
00080058
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Mieke Wesdorp
00285517
-
PubMed: Inoue 1999
,
PubMed: Inoue 2007
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285523
-
PubMed: Tang 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285529
-
PubMed: Wang 2014
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285530
-
PubMed: Pingault 2010
,
PubMed: Elmaleh-Bergès 2013
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285535
-
PubMed: Inoue 2004
,
PubMed: Touraine 2000
,
PubMed: Jacobs 1992
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285539
-
PubMed: Viñuela 2009
,
PubMed: Inoue 2004
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285544
-
PubMed: Touraine 2000
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285545
-
PubMed: Inoue 2002
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285547
-
PubMed: Pingault 2002
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285549
-
PubMed: Sznajer 2008
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285550
-
PubMed: Jiang 2011
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285553
-
PubMed: Southard-Smith 1999
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285554
-
PubMed: Chen 2015
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285555
-
PubMed: Pingault 1998
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285559
-
PubMed: Barnett 2009
,
PubMed: Chaoui 2011
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285560
-
PubMed: Pingault 2010
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285562
-
PubMed: Pingault 1998
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285564
-
PubMed: Marcos 2014
-
-
-
-
-
-
-
-
-
KS
-
1
1
Global Variome, with Curator vacancy
00285570
-
PubMed: Pingault 2010
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285572
-
PubMed: Bondurand 1999
,
PubMed: Hennekam 1996
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285573
-
PubMed: Marcos 2014
-
-
-
-
-
-
-
-
-
KS
-
1
1
Global Variome, with Curator vacancy
00285582
-
PubMed: Tang 2015
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285583
-
PubMed: Chen 2014
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285584
-
PubMed: Jiang 2011
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285585
-
PubMed: Pingault 1998
,
PubMed: Xiong 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285586
-
PubMed: Pingault 1998
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285587
-
PubMed: Vaaralahti 2014
-
-
-
-
-
-
-
-
-
KS
hearing loss (HL)
1
1
Global Variome, with Curator vacancy
00285589
-
PubMed: Inoue 2002
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285594
-
PubMed: Arimoto 2014
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00285595
-
PubMed: Chen 2010
,
PubMed: Zhang 2012
-
-
-
-
-
-
-
-
-
WS
-
1
1
Global Variome, with Curator vacancy
00295915
-
-
-
F
-
-
-
-
-
-
-
?
Global developmental delay (HP:0001263); Absent speech (HP:0001344); Hearing impairment (HP:0000365); Autism (HP:0000717)
1
1
Andreas Laner
00295955
SH289-664
-
-
M
?
Korea, South (Republic)
Asian
12y
-
-
-
deafness
Hearing loss, developmental delay, Kallmann syndrome
1
1
Seungmin Lee
00309873
HL027
PubMed: Roman 2020
,
Journal: Roman 2020
new-born screening
-
-
United States
-
-
-
-
-
HL
see paper; ...
1
1
Johan den Dunnen
00315771
-
PubMed: Pingault 2010
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315772
-
PubMed: Pingault 2002
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315773
-
PubMed: Sham 2001
-
F
-
China
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315774
-
PubMed: Pingault 1998
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315775
-
PubMed: Bondurand 2007
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315776
-
PubMed: Pingault 2002
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315777
-
PubMed: Hennekam 1996
,
PubMed: Bondurand 1999
-
F
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315778
-
Touraine 1998 Am J Hum Genet 63:A174
-
-
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315779
-
PubMed: Morin 2008
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315780
-
PubMed: Pingault 1998
-
F
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315781
-
PubMed: Iso 2008
-
F
-
Japan
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315782
-
PubMed: Elmaleh-Berges 2013
,
PubMed: Pingault 2010
-
M
-
Belgium
-
-
-
-
-
WS
mother/brother have variant and present with isolated deafness; mother has trigeminal neuralgia
1
1
Veronique Pingault
00315783
-
PubMed: Barnett 2009
-
M
-
-
-
-
-
-
-
?
visual impairment inner ear abnormalities aplasia of cochlear nerves and olfactory bulbs
1
1
Veronique Pingault
00315784
-
PubMed: Pingault 1998
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315785
-
PubMed: Southard-Smith 1999
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315786
-
PubMed: Elmaleh-Berges 2013
,
PubMed: Pingault 2010
-
M
-
France
-
-
-
-
-
WS
inner ear abnormalities
1
1
Veronique Pingault
00315787
-
PubMed: Sznajer 2008
-
M
-
Turkey
-
-
-
-
-
?
inner ear abnormalities autistic-like behaviour
1
1
Veronique Pingault
00315788
-
PubMed: Pingault 2002
-
M
-
Algeria
-
-
-
-
-
?
hypoventilation inner ear abnormalities
1
1
Veronique Pingault
00315789
-
PubMed: Inoue 2002
-
M
-
-
-
-
-
-
-
?
hypoventilation
1
1
Veronique Pingault
00315790
-
PubMed: Touraine 2000
-
M
-
France
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315791
-
PubMed: Pingault 2002
-
M
-
Japan
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315792
-
PubMed: Pingault 2000
-
F
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315793
-
PubMed: Elmaleh-Berges 2013
,
PubMed: Pingault 2010
-
M
-
France
-
-
-
-
-
WS
inner ear abnormalities
1
1
Veronique Pingault
00315794
-
PubMed: Inoue 2004
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315795
-
PubMed: Vinuela 2009
-
M
-
-
-
-
-
-
-
?
inner ear abnormalities
1
1
Veronique Pingault
00315796
-
PubMed: Pingault 2010
-
F
-
Australia
-
-
-
-
-
?
inner ear abnormalities
1
1
Veronique Pingault
00315797
-
PubMed: Inoue 2004
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315798
-
PubMed: Touraine 2000
;
PubMed: Korsch 2001
-
M
-
Germany
-
-
-
-
-
?
hypogonadism
1
2
Veronique Pingault
00315799
-
PubMed: Touraine 2000
-
M
-
France
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315800
-
PubMed: Inoue 2004
-
M
-
Japan
-
-
-
-
-
?
inner ear abnormalities
1
1
Veronique Pingault
00315801
-
PubMed: Pingault 2010
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315802
-
PubMed: Elmaleh-Berges 2013
-
-
-
France
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315803
-
PubMed: Pingault 1998
-
-
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315804
-
PubMed: Inoue 2004
-
F
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315805
-
PubMed: Pingault 2002
-
M
-
-
-
-
-
-
-
?
inner ear abnormalities
1
1
Veronique Pingault
00315806
-
PubMed: Toki 2003
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315807
-
PubMed: Southard-Smith 1999
-
-
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315808
-
PubMed: Verheij 2006
-
F
-
-
-
-
-
-
-
?
absent pain sensation
1
1
Veronique Pingault
00315809
-
PubMed: Elmaleh-Berges 2013
,
PubMed: Pingault 2010
-
M
-
France
-
-
-
-
-
WS
inner ear abnormalities
1
1
Veronique Pingault
00315810
-
PubMed: Sham 2001
-
M
-
China
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315811
-
PubMed: Inoue 1999
-
F
-
Japan
-
-
-
-
-
?
dystopia canthorum
1
1
Veronique Pingault
00315812
-
PubMed: Elmaleh-Berges 2013
,
PubMed: Pingault 2010
-
F
-
France;Nigeria
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315813
-
PubMed: Sanchez-Meijas 2010
-
F
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315814
-
PubMed: Sanchez-Meijas 2010
-
M
-
-
-
-
-
-
-
HSCR
-
1
1
Veronique Pingault
00315815
-
PubMed: Chen 2010
-
-
-
China
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315816
-
PubMed: Chen 2010
-
-
-
China
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315817
-
PubMed: Chen 2010
-
-
-
China
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315818
-
PubMed: Jiang 2011
a sister has WS2
-
-
China
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315819
-
PubMed: Jiang 2011
-
F
-
China
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315820
-
PubMed: Unzicker 2011
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315821
-
PubMed: Chaoui 2011
-
F
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315822
-
PubMed: Chaoui 2011
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315823
-
PubMed: Chaoui 2011
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315824
-
PubMed: Chaoui 2011
-
F
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315825
-
PubMed: Elmaleh-Berges 2013
,
PubMed: Chaoui 2011
-
M
-
Algeria
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315826
-
PubMed: Chaoui 2011
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315827
-
PubMed: Chaoui 2011
-
M
-
-
-
-
-
-
-
?
-
2
1
Veronique Pingault
00315828
-
PubMed: Chaoui 2011
-
M
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315829
-
PubMed: Chaoui 2011
-
F
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315830
-
PubMed: Chaoui 2011
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315831
-
PubMed: Chaoui 2011
-
-
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
00315832
-
PubMed: Zhang 2012
-
-
-
-
-
-
-
-
-
WS
-
1
1
Veronique Pingault
00315833
-
PubMed: Bondurand 2007
-
M
-
-
-
-
-
-
-
WS
bilateral cryptorchidism
1
1
Veronique Pingault
00315834
-
PubMed: Bondurand 2007
-
M
-
-
-
-
-
-
-
?
anosmia, hypermetropia, dental-enamel anomalies
1
1
Veronique Pingault
00315835
-
PubMed: Bondurand 2007
-
M
-
-
-
-
-
-
-
?
-
1
1
Veronique Pingault
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