Disease #05124 (HED (dysplasia, ectodermal, hypohidrotic (HED)))

Official abbreviation	HED
Name	dysplasia, ectodermal, hypohidrotic (HED)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	79
Phenotype entries for this disease	78
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-25 10:28:34 +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.

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.

79 entries on 1 page. Showing entries 1 - 79.

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
00399296	patient	PubMed: Chassaing 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Morocco	-	-	-	-	-	HED	see paper; ..., hypotrichosis, hypodontia, anhidrosis; childhood one milk tooth; 27y-permanent teeth not erupted; skin very dry, eczematous, hyperpigmented stains forehead, cheek and chin; scalp hair appeared late and is thin, brittle and sparse; no axillary hair, no pubic hair, sparse eyebrows, sparse eyelashes; recurrent rhinitis, multiple respiratory infections; no sweating	EDARADD	EDARADD	1	1	Johan den Dunnen
00399297	patientss	PubMed: Chassaing 2010	-	-	-	France	-	-	-	-	-	HED	-	EDARADD	EDARADD	1	2	Johan den Dunnen
00399298	FamED1176	PubMed: Headon 2001	4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	United States	-	-	-	-	-	HED	see paper; ...	EDARADD	EDARADD	1	1	Johan den Dunnen
00399321	family	PubMed: Chaudhary 2016	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	India	-	-	-	-	-	HED	see paper; ...	EDARADD	EDARADD	1	2	Johan den Dunnen
00399324	patient	PubMed: Suda 2010	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Mongolia	-	-	-	-	-	HED	see paper; ..., hypohidrotic ectodermal dysplasia, short stature, normal mental development; sparse hair, sparse eyebrows; normal finger nails; unable to sweat; no cardiac abnormality; no erupted deciduous or permanent teeth, lateral cephalogram and panoramic radiograph only one mandibular molar right side; alveolar bone height maxilla and mandible extremely low	EDARADD	EDARADD	1	1	Johan den Dunnen
00399326	patient	PubMed: Masui 2011	-	F	-	Japan	-	-	-	-	-	HED	see paper; ..., sparse scalp hair, decreased sweating since birth, no nail anomalies, no palmoplantar hyperkeratosis; hypodontia, saddle nose, periorbital wrinkling	EDAR	EDAR	1	1	Johan den Dunnen
00399417	Pat10	PubMed: Martínez-Romero 2019	2-generation family, 2 twin sisters	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	2	Johan den Dunnen
00399418	Pat13	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399419	Pat26	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399420	Pat20	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399421	Pat33	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399422	Pat35	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399423	Pat34	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399424	Pat45	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399425	Pat47	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399426	Pat31	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399427	Pat17	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399428	Pat37	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399429	Pat21	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA, EDARADD	2	1	Johan den Dunnen
00399430	Pat23	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399431	Pat48	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399432	Pat50	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399433	Pat36	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399434	Pat02	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399435	Pat06	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399436	Pat01	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399437	Pat29	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399438	Pat11	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399439	Pat14	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399440	Pat22	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399442	Pat15	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399443	Pat16	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399444	Pat07	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399445	Pat08	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399446	Pat09	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399447	Pat03	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399448	Pat30	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399449	Pat19	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399450	Pat24	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399451	Pat04	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399452	Pat32	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399453	Pat25	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399454	Pat05	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDAR	EDAR	2	1	Johan den Dunnen
00399455	Pat18	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDAR	EDAR	1	1	Johan den Dunnen
00399456	Pat42	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDAR	EDAR	1	1	Johan den Dunnen
00399457	Pat12	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDAR	EDAR	1	1	Johan den Dunnen
00399458	Pat38	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	EDARADD	EDARADD	1	1	Johan den Dunnen
00399459	Pat40	PubMed: Martínez-Romero 2019	-	M	-	Spain	-	-	-	-	-	HED	-	EDARADD	EDARADD	1	1	Johan den Dunnen
00399461	Pat46	PubMed: Martínez-Romero 2019	-	F	-	Spain	-	-	-	-	-	HED	-	WNT10A	WNT10A	2	1	Johan den Dunnen
00399471	patient	PubMed: van der Hout 2008	2-generation family, 1 affected, unaffected heterozygous carrier mother	F	-	-	-	-	-	-	-	HED	conical teeth, sparse downy hair	EDARADD	EDARADD	1	1	Johan den Dunnen
00399478	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399479	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399480	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399481	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399482	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399483	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399484	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399485	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399486	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399487	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399488	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399489	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399490	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399491	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399492	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399493	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399494	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399495	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399496	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399497	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399498	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399499	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399500	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399501	-	PubMed: van der Hout 2008	-	-	-	-	-	-	-	-	-	HED	-	EDA	EDA	1	1	Johan den Dunnen
00399502	Fam1	PubMed: van der Hout 2008	2-generation family, 2 affected brothers, mildly affected mother	M	-	Netherlands	-	-	-	-	-	HED	conical teeth, hypodontia, thin hair, sparse hair,decreased sweating; older brother only two permanent teeth, atrophic rhinitis, multiple respiratory infections; mother hypohidrosis, few permanent teeth, milk teeth remained	EDAR	EDAR	2	2	Johan den Dunnen
00399503	Fam2	PubMed: van der Hout 2008	2-generation family, affected mother/son	F;M	-	Netherlands	-	-	-	-	-	HED	see paper; ...	EDAR	EDAR	1	2	Johan den Dunnen
00399504	Fam3	PubMed: van der Hout 2008	2-generation family, affected mother/daughter	F	-	Netherlands	-	-	-	-	-	HED	see paper; ...	EDAR	EDAR	1	2	Johan den Dunnen
00399505	Fam4	PubMed: van der Hout 2008	2-generation family, affected mother/daughter	F	-	Netherlands	-	-	-	-	-	HED	see paper; ...	EDAR	EDAR	1	2	Johan den Dunnen
00399506	Fam5	PubMed: van der Hout 2008	2-generation family, affected mother/son	F;M	-	Netherlands	-	-	-	-	-	HED	see paper; ...	EDAR	EDAR	1	2	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD