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.
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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.
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When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
|
Legend |
How to query |
 Individual ID
|
 ID_report
|
Reference
|
Remarks
|
Gender
|
Consanguinity
|
Country
|
Population
|
Age at death
|
VIP
|
Data_av
|
Treatment
|
Disease
|
Phenotype details
|
Variants
|
Panel size
|
Owner
|
| 00017817 |
- |
PubMed: Marakhonov 2012 |
in-depth analysis of the pedigree of the proband’s family revealed that at least one person in each generation was affected. All other affected relatives were dead, so we were unable to perform medical and molecular genetic analyses. |
F |
no |
(Russian Federation) |
- |
- |
- |
- |
- |
ECTD2 |
- |
1 |
1 |
Andrey Marakhonov |
| 00029013 |
- |
PubMed: Lamartine 2000 |
5-generation family, 23 affecteds (12F, 11M) |
- |
- |
France |
- |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
23 |
Johan den Dunnen |
| 00029014 |
- |
PubMed: Lamartine 2000 |
2-generation family, 3 affecteds, father son and daugther |
- |
- |
France |
- |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
3 |
Johan den Dunnen |
| 00029015 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
- |
African |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029016 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
Spain |
- |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029017 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
Canada |
French-Canadian |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029018 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
Canada |
French-Canadian |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029019 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
Canada |
French-Canadian |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029020 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
United Kingdom (Great Britain) |
Scottish, Irish |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029021 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
France |
- |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Johan den Dunnen |
| 00029022 |
- |
PubMed: Lamartine 2000 |
3-generation family, 5 affecteds (3F, 2M) |
- |
- |
United Kingdom (Great Britain) |
Wales |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Andrey Marakhonov |
| 00029023 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
India |
- |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Andrey Marakhonov |
| 00029024 |
- |
PubMed: Lamartine 2000 |
- |
- |
- |
Malaysia |
- |
- |
- |
- |
- |
ECTD2 |
hidrotic ectodermal dysplasia |
1 |
1 |
Andrey Marakhonov |
| 00043730 |
- |
PubMed: Grifa 1999 |
- |
- |
- |
Italy |
- |
- |
- |
- |
- |
DFNA3B |
see paper |
1 |
1 |
Connexin-deafness |
| 00043731 |
- |
Pandya, PC |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043736 |
- |
PubMed: Kelley et al, 1999 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043737 |
- |
PubMed: Kelley et al, 1999 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043738 |
- |
PubMed: Gabriel et al, 2001 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043739 |
- |
PubMed: Kelley et al, 1999 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043740 |
- |
PubMed: Kelley et al, 1999 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043741 |
- |
PubMed: Kelley et al, 1999 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Connexin-deafness |
| 00043744 |
- |
PubMed: Yang 2007 |
- |
- |
- |
Taiwan |
- |
- |
- |
- |
- |
DFNA1 |
- |
1 |
1 |
Julia Lopez |
| 00043746 |
- |
PubMed: Baris 2008 |
affected mother and son |
F |
no |
Israel |
- |
- |
- |
- |
- |
ECTD2 |
see paper; ... |
1 |
1 |
Julia Lopez |
| 00043747 |
- |
PubMed: Nemoto-Hasebe 2009 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
keratoderma palmoplantar, deafness |
see paper; palmoplantar keratoderma with pseudoainhum, knuckle pads, hearing loss, ... |
1 |
1 |
Julia Lopez |
| 00043748 |
- |
PubMed: Smith 2002 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ECTD2 |
see paper; ... |
1 |
1 |
Julia Lopez |
| 00043749 |
- |
{PMID16950989:Gardner 2006} |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DFNA3A |
- |
1 |
1 |
Julia Lopez |
| 00043755 |
- |
PubMed: del Castillo 2002, Journal: del Castillo 2002 |
2-generation family, affected mother and father (parents of daugthers II1/2) |
- |
no |
Spain |
- |
- |
- |
- |
- |
DFNB1A |
digenic inheritance; severe deafness |
1 |
2 |
Johan den Dunnen |
| 00043756 |
- |
PubMed: del Castillo 2002, Journal: del Castillo 2002 |
2-generation family, affected sisters (parents I1/2) |
F |
no |
Spain |
- |
- |
- |
- |
- |
DFNB1B |
- |
1 |
1 |
Johan den Dunnen |
| 00043757 |
- |
PubMed: del Castillo 2005, Journal: del Castillo 2005 |
ARNSHI cases from Spain |
? |
no |
Spain |
- |
- |
- |
- |
- |
DFNB1B |
di-geneic inheritance; autosomal recessive non-syndromic hearing impairment |
1 |
10 |
Johan den Dunnen |
| 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 |
1 |
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 |
1 |
1 |
Johan den Dunnen |
| 00059145 |
- |
PubMed: Sommen 2016, Journal: Sommen 2016 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
DFNB;ARNSHL |
- |
1 |
1 |
Manou Sommen |
| 00117237 |
S1584 |
PubMed: Baux 2017, Journal: Baux 2017 |
Proband |
M |
no |
France |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
David Baux |
| 00117245 |
S1636 |
PubMed: Baux 2017, Journal: Baux 2017 |
Proband |
M |
no |
France |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
David Baux |
| 00117264 |
S1778 |
PubMed: Baux 2017, Journal: Baux 2017 |
Proband |
F |
no |
France |
- |
- |
- |
- |
- |
deafness |
- |
1 |
1 |
David Baux |
| 00181210 |
24158611-Pat |
PubMed: Dalamon 2013 |
2-generation family, 2 affected brothers, unaffected heterozygous carrier parents |
M |
no |
Argentina |
- |
>30y |
- |
- |
- |
DFNB |
- |
1 |
1 |
Viviana Karina Dalamón |
| 00181511 |
11807148-PatSpa |
PubMed: del Castillo 2002 |
- |
- |
- |
Spain |
- |
- |
- |
- |
- |
deafness |
non-syndromic hearing impairment |
1 |
1 |
Johan den Dunnen |
| 00181512 |
11807148-PatSpa |
PubMed: del Castillo 2002 |
- |
- |
- |
Spain |
- |
- |
- |
- |
- |
deafness |
non-syndromic hearing impairment |
1 |
19 |
Johan den Dunnen |
| 00181513 |
11807148-PatCub |
PubMed: del Castillo 2002 |
- |
- |
- |
Cuba |
- |
- |
- |
- |
- |
deafness |
non-syndromic hearing impairment |
1 |
2 |
Johan den Dunnen |
| 00181514 |
- |
PubMed: del Castillo 2005, Journal: del Castillo 2005 |
ARNSHI cases |
- |
- |
Spain |
- |
- |
- |
- |
- |
DFNB1B |
di-geneic inheritance; autosomal recessive non-syndromic hearing impairment |
1 |
1 |
Johan den Dunnen |
| 00181515 |
- |
PubMed: del Castillo 2005, Journal: del Castillo 2005 |
ARNSHI cases |
- |
- |
Spain |
- |
- |
- |
- |
- |
DFNB1B |
di-geneic inheritance; autosomal recessive non-syndromic hearing impairment |
2 |
1 |
Johan den Dunnen |
| 00181516 |
- |
PubMed: del Castillo 2005, Journal: del Castillo 2005 |
ARNSHI cases |
- |
- |
Italy |
- |
- |
- |
- |
- |
DFNB1B |
di-geneic inheritance; autosomal recessive non-syndromic hearing impairment |
1 |
1 |
Johan den Dunnen |
| 00181517 |
- |
PubMed: del Castillo 2005, Journal: del Castillo 2005 |
ARNSHI cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
DFNB1B |
di-geneic inheritance; autosomal recessive non-syndromic hearing impairment |
1 |
4 |
Johan den Dunnen |
| 00181518 |
- |
PubMed: del Castillo 2005, Journal: del Castillo 2005 |
ARNSHI cases |
- |
- |
Brazil |
- |
- |
- |
- |
- |
DFNB1B |
di-geneic inheritance; autosomal recessive non-syndromic hearing impairment |
1 |
1 |
Johan den Dunnen |
| 00183001 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (severe) |
1 |
1 |
Viviana Karina Dalamón |
| 00183002 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183003 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183004 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183005 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183006 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183007 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183008 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183009 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00183018 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (moderate) |
1 |
1 |
Viviana Karina Dalamón |
| 00183028 |
24158611-Pat |
PubMed: Dalamon 2013 |
analysis 476 unrelated non-syndromic deaf individuals |
- |
- |
Argentina |
- |
- |
- |
- |
- |
deafness |
deafness (profound) |
1 |
1 |
Viviana Karina Dalamón |
| 00466846 |
Pat2 |
PubMed: Caengprasath 2023 |
2-generation family, 1 affected, unaffected carrier mother |
M |
- |
Thailand |
- |
- |
- |
- |
- |
IFAP |
see paper; ..., birth symmetric papules; infancy hair loss, photophobia, corneal edema, abrasion, conjunctivitis, superficial punctate keratitis; bilateral subepithelial fibrovascular tissue ingrowth cornea; 4y-sparse eyebrows/eyelashes, non-scarring alopecia |
1 |
1 |
Johan den Dunnen |
|
|
Legend |
How to query |
