Disease #05728 (ECTD (dysplasia, ectodermal (ECTD)))

Official abbreviation	ECTD
Name	dysplasia, ectodermal (ECTD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	60
Phenotype entries for this disease	59
Associated with 2 genes	CST6, KRT85
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-04-20 19:23:21 +02:00 (CEST)
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.

60 entries on 1 page. Showing entries 1 - 60.

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
00299714	FamED19	PubMed: Kere 1996	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299715	FamED7	PubMed: Kere 1996	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299716	FamED1166	PubMed: Kere 1996	family, mother not a carrier	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299717	FamED12	PubMed: Kere 1996	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299718	FamED73	PubMed: Kere 1996	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299719	FamED1113	PubMed: Kere 1996	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299720	FamED52	PubMed: Kere 1996	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299721	FamED1024	PubMed: Kere 1996	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299722	FamED1013	PubMed: Kere 1996	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299723	FamED1180	PubMed: Ferguson 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299724	FamED-D14	PubMed: Ferguson 1998	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299725	FamED1129	PubMed: Ferguson 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299726	FamED1108	PubMed: Ferguson 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299727	FamED46	PubMed: Ferguson 1998	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299728	FamED1013	PubMed: Ferguson 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299729	FamED1075	PubMed: Ferguson 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299730	FamED1081	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299731	FamED1095	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299732	FamED1039	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299733	FamED1011	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299734	FamED1019	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299735	FamED1050	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299736	FamED1204	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299737	FamED1018	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299738	FamED1097	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299739	FamED1197	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299740	FamED1007	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299741	FamED1002	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299742	FamED1001	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299743	FamED1021	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299744	FamED1126	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299745	FamED1073	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299746	FamED1022	PubMed: Monreal 1998	-	M	-	United States	-	-	-	-	-	ECTD	-	EDA	EDA	1	1	Johan den Dunnen
00299747	-	PubMed: Yotsumoto 1998	2-generation family, 1 affected, heterozygous carrier mother	M	-	Japan	-	-	-	-	-	ECTD	recurrent fever 38oC due to the absence of sweating since birth, characteristic facial appearance, anhidrosis; 1m- eruptions on face and head spread to entire body; diagnosed with atopic dermatitis, nasal allergy, chronic sinusitis, heat intolerance; fine curly sparse hair, absent eyebrows, saddle nose, conical teeth, deciduous canine and second premolar teeth, permanent first incisor and first molar teeth maxillary ridge, no deciduous and permanent tooth buds in mandible	EDA	EDA	1	1	Johan den Dunnen
00299828	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	ECTD	-	EDARADD	EDARADD	1	1	Johan den Dunnen
00299829	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	ECTD	-	EDARADD	EDARADD	1	1	Johan den Dunnen
00299830	-	PubMed: Wohlfart 2016	-	-	-	Germany	-	-	-	-	-	ECTD	-	EDARADD	EDARADD	1	1	Johan den Dunnen
00385921	V1.12	PubMed: Prasad 2016	-	M	-	-	-	-	-	-	-	ECTD	ectodermal dysplasia	EDA	EDA	1	1	Johan den Dunnen
00399295	family	PubMed: Cluzeau 2019	5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Tunisia	-	-	-	-	-	ECTD	see paoer; ..., severe hypo-hidrotic and anhidrotic ectodermal dysplasia, multiple pulmonary infections; sparse hair, oligodontia with conical widely spaced teeth, ichthyosiform dry skin, prominent lips, frontal bossing, pointed chin; inability to sweat, episodes severe hyperpyrexia since early childhood	EDARADD	EDARADD	1	6	Johan den Dunnen
00399331	EDA_F1	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; anhidrosis; normal nails; severe oligodontia, conical incisors; facila dysmorphism, hyperkeratosis	EDA	EDA	1	1	Johan den Dunnen
00399332	EDA_F2	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, skin severe dryness; normal nails; oligodontia, conical incisors; facila dysmorphism	EDA	EDA, EDAR	2	1	Johan den Dunnen
00399333	EDA_F3	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, dry skin; normal nails; oligodontia, conical incisors; facila dysmorphism	EDA	EDA, EDAR	2	1	Johan den Dunnen
00399334	EDA_F4	PubMed: Bodemer 2019	-	M	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; normal skin; normal nails; oligodontia, tapered incisors; facila dysmorphism	EDA	EDA	1	1	Johan den Dunnen
00399335	EDA_F5	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; anhidrosis, skin severe dryness; spoon-shaped nails; severe oligodontia, conical incisors; facila dysmorphism	EDA	EDA, EDAR	2	1	Johan den Dunnen
00399336	EDA_F6	PubMed: Bodemer 2019	-	M	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; anhidrosis, skin severe dryness; normal nails; severe oligodontia, conical incisors; facila dysmorphism	EDA	EDA, EDAR	2	1	Johan den Dunnen
00399337	EDAR_F1	PubMed: Bodemer 2019	-	M	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; dry skin; normal nails; severe oligodontia, conical incisors; facila dysmorphism, palmar hyperhidrosis	EDAR	-	-	1	Johan den Dunnen
00399338	EDAR_F2	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; anhidrosis, dry skin; normal nails; severe oligodontia, conical incisors, class III malocclusion; facila dysmorphism, psychomotor retardation	EDAR	-	-	1	Johan den Dunnen
00399339	EDAR_F3	PubMed: Bodemer 2019	-	F	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, , skin severe dryness; normal nails; severe oligodontia, conical incisors, class III malocclusion; facila dysmorphism, palmar hyperhidrosis	EDAR	-	-	1	Johan den Dunnen
00399340	EDAR_F4	PubMed: Bodemer 2019	-	F	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis; spoon-shaped nails; severe oligodontia, conical incisors; facila dysmorphism, clinodactyly, postaxial polydactyly	EDAR	EDAR	1	1	Johan den Dunnen
00399341	EDAR_F5	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; anhidrosis, dry skin; normal nails; severe oligodontia, conical incisors; facila dysmorphism	EDAR	EDAR	1	1	Johan den Dunnen
00399342	EDAR_F6	PubMed: Bodemer 2019	-	M	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis; spoon-shaped nails; severe oligodontia, conical incisors; facila dysmorphism	EDAR	EDAR	1	1	Johan den Dunnen
00399343	EDARADD_F1-1	PubMed: Bodemer 2019	2-generation family, 2 affected sibs	M	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; anhidrosis, dry skin; spoon-shaped nails; severe oligodontia, class III malocclusion; facila dysmorphism, blue sclera, palmar hyperhidrosis	EDARADD	EDARADD	1	2	Johan den Dunnen
00399344	EDARADD_F1-2	PubMed: Bodemer 2019	-	F	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, dry skin; spoon-shaped nails; severe oligodontia, class III malocclusion; facila dysmorphism, palmar keratosis	EDARADD	EDARADD	1	1	Johan den Dunnen
00399345	WNT10A_F1	PubMed: Bodemer 2019	-	F	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, dry skin; normal nails; oligodontia;	WNT10A	WNT10A	2	1	Johan den Dunnen
00399346	WNT10A_F2-1	PubMed: Bodemer 2019	2-generation family, 2 affected brothers	M	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, skin severe dryness; normal nails; severe oligodontia, tapered incisors (only permanant teeth);	WNT10A	WNT10A	1	2	Johan den Dunnen
00399347	WNT10A_F2-2	PubMed: Bodemer 2019	-	M	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, dry skin; normal nails; severe oligodontia, tapered incisors (only permanant teeth);	WNT10A	WNT10A	1	1	Johan den Dunnen
00399348	WNT10A_F3	PubMed: Bodemer 2019	-	F	yes	Turkey	-	-	-	-	-	ECTD	hypotrichosis; dry skin; spoon-shaped nails; severe oligodontia, conical incisors, class III malocclusion; Palmar hyperhidrosis	WNT10A	WNT10A	1	1	Johan den Dunnen
00399349	WNT10A_F4	PubMed: Bodemer 2019	-	F	no	Turkey	-	-	-	-	-	ECTD	hypotrichosis; hypohidrosis, dry skin; spoon-shaped nails; severe oligodontia (only permanant teeth); atopic dermatitis	WNT10A	WNT10A	2	1	Johan den Dunnen
00437942	patient	PubMed: Ferrer 2019	3-generation family, 1 triple affected	F	-	United States	-	-	-	-	-	ATOD, ECTD, WITKOS	see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother	-	EDAR, FLG, SIN3A	3	1	Johan den Dunnen
00443920	family	PubMed: Naeem 2006	5-generation family, 8 affected (4F, 4M)	F;M	yes	Pakistan	-	-	-	-	-	ECTD	see paper; ..., ectodermal dysplasia of hair and nail type; total alopecia, nail dystrophy since birth, hairs absent from scalp, face, chest, arms, legs; born completely devoid of eyebrows and eyelashes, never developed axillary and pubic hair	KRT85	KRT85	1	8	Johan den Dunnen

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Global Variome shared LOVD