Disease #00108 (DYT (dystonia (DYT)))

Official abbreviation	DYT
Name	dystonia (DYT)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	175
Phenotype entries for this disease	215
Associated with 3 genes	GNAL, KMT2B, THAP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-01-24 21:46:00 +01:00 (CET)
Date last edited	2018-04-03 21:21:00 +02:00 (CEST)

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'

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175 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00000368	-	-	-	-	-	United States	African American	-	-	-	-	DYT	-	GNAL	-	-	9	Satya Vemula
00016401	-	-	-	-	-	Germany	-	-	-	-	-	DYT	-	GNAL, THAP1, TOR1A	TOR1A	1	1	Philip Seibler
00016402	-	-	-	-	-	Germany	-	-	-	-	-	DYT	-	GNAL, THAP1, TOR1A	TOR1A	1	1	Philip Seibler
00133724	-	PubMed: DeBerardinis	-	M	-	-	white	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133727	-	PubMed: Hedrich 2004	large family (5 affecteds) alcohol sensitive; 3 affecteds tested express mutant allele only, one unaffected the normal allele	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133728	-	PubMed: Hedrich 2004, PubMed: Gerrits 2006	-	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133729	-	PubMed: Schule 2004	3 generation family (5affecteds)	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133730	-	PubMed: Tezenas 2005	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133731	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133732	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133733	-	PubMed: Tezenas 2005	-	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133734	-	PubMed: Tezenas 2005	5 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133735	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133736	-	PubMed: Cif	large family (7 affecteds)	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	7	Johan den Dunnen
00133737	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133738	-	PubMed: Tezenas 2005	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133739	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133740	-	PubMed: Asmus	-	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133741	-	PubMed: Valente 2005, OMIM:var0001	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133742	-	PubMed: Zimprich, OMIM:var0001	3 affecteds (2 male 1 F), east Bavaria	-	-	Germany	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133743	-	PubMed: Valente 2005, OMIM:var0001	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133744	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133745	-	PubMed: Tezenas 2005, {DB: Marechal}	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133746	-	PubMed: Tezenas 2005	-	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133747	-	PubMed: Han, OMIM:var0002	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133748	-	PubMed: Zimprich, OMIM:var0002	large family 7 affecteds (4 male 3 F), north Bavaria	-	-	Germany	-	-	-	-	-	DYT	-	SGCE	SGCE	1	7	Johan den Dunnen
00133749	-	PubMed: Hedrich 2004	unaffected carrier fathter	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133750	-	PubMed: Zimprich, OMIM:var0002	large family 8 affecteds (3 male 5 F), Prussia	-	-	Germany	-	-	-	-	-	DYT	-	SGCE	SGCE	1	8	Johan den Dunnen
00133751	-	PubMed: Han, OMIM:var0002	13 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	13	Johan den Dunnen
00133752	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133753	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133754	-	PubMed: Asmus	5 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133755	-	PubMed: Hedrich 2004, PubMed: Gerrits 2006	affected sister	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133756	-	PubMed: Tezenas 2005	5 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133762	-	PubMed: Zimprich, OMIM:var0004	4 affecteds (2 male 2 F)	-	-	Germany	-	-	-	-	-	DYT	-	SGCE	SGCE	1	4	Johan den Dunnen
00133763	-	PubMed: Marechal	4 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	4	Johan den Dunnen
00133764	-	PubMed: Tezenas 2005	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133765	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133767	-	PubMed: Asmus 2005, OMIM:var0010	3 generation family (7 affecteds)	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	7	Johan den Dunnen
00133768	-	PubMed: Valente 2005	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133769	-	PubMed: Zimprich, OMIM:var0003	large family 11 affecteds (9 male 2 F)	-	-	Germany	-	-	-	-	-	DYT	-	SGCE	SGCE	1	11	Johan den Dunnen
00133770	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133771	-	PubMed: Klein, PubMed: Doheny OMIM:var0006	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133772	-	PubMed: Gerrits 2006	-	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133773	-	PubMed: Muller, PubMed: Kock	carrier father expresses normal allele only	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133774	-	PubMed: Asmus 2005, OMIM:var0011	2 affected sisters	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133775	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133776	-	PubMed: Doheny	5 affecteds, change submitted by authors	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133777	-	PubMed: Asmus	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133778	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133779	-	PubMed: Gerrits 2006	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133780	-	PubMed: Tezenas 2005	-	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133781	-	PubMed: Zimprich	4 affecteds (3 male 1 F)	-	-	Germany	-	-	-	-	-	DYT	-	SGCE	SGCE	1	4	Johan den Dunnen
00133782	-	PubMed: Gerrits 2006	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133783	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133784	-	PubMed: Doheny	large family, 8 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	8	Johan den Dunnen
00133785	-	PubMed: Han	6 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	6	Johan den Dunnen
00133786	-	PubMed: Klein, OMIM:var0005	8 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	8	Johan den Dunnen
00133787	-	PubMed: Tezenas 2005	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133788	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133789	-	PubMed: Gerrits 2006	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133790	-	PubMed: Foncke, PubMed: Doheny, OMIM:var0007	5 generation family (5 affecteds)	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	5	Johan den Dunnen
00133791	-	PubMed: Gerrits 2006	-	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133792	-	PubMed: Muller	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	2	Johan den Dunnen
00133793	-	PubMed: Schule 2004	3 generation family (6 affecteds)	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	6	Johan den Dunnen
00133794	-	PubMed: Hjermind, OMIM:var0008	2 related families (9 affecteds)	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	9	Johan den Dunnen
00133795	-	PubMed: Valente 2005, OMIM:var0009	-	F	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133796	-	PubMed: Tezenas 2005	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	3	Johan den Dunnen
00133797	-	PubMed: Valente 2005, OMIM:var0009	-	M	-	-	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Johan den Dunnen
00133798	-	-	-	-	-	Netherlands	-	-	-	-	-	DYT	-	SGCE	SGCE	1	1	Ieke Ginjaar
00163651	?	PubMed: Linazasoro 2002, PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163652	?	PubMed: Zaremba 2004, PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163653	?	PubMed: Pittock 2000, PubMed: Brashear 2007	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163654	?	PubMed: Dobyns 1993, PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163655	?	PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163656	?	PubMed: Brashear 1997, PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163657	?	PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163658	?	PubMed: de Carvalho Aguiar 2004	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163659	?	PubMed: Tarsy 2010	-	-	-	-	Africa Caribbean	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163660	?	PubMed: Kamm 2008	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163661	?	PubMed: Svetel 2010	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163662	?	PubMed: Anselm 2009	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00163663	?	PubMed: Blanco-Arias 2009	-	-	-	-	-	-	-	-	-	DYT	-	ATP1A3	ATP1A3	1	1	Johan den Dunnen
00170840	0000178605	PubMed: Gauthier 2018	-	M	-	Italy	-	31y	-	-	-	DYT	Mild Upper Limb Tremor, Lower Limb pyramidal signs	-	VPS13D	2	2	Inge Meijer
00170841	0000178606	PubMed: Gauthier 2018	-	F	-	Italy	-	29y	-	-	-	DYT	Upper limb tremor, Spastic paraparesis and dystonia, gait scissoring	-	VPS13D	2	1	Inge Meijer
00170843	0000178603	PubMed: Gauthier 2018	-	F	-	Egypt	-	09y	-	-	-	DYT	Gait instability, Ataxia, muscle weakness, Mild Intellectual Disability, Motor delay	-	VPS13D	2	1	Inge Meijer
00170844	0000178604	PubMed: Gauthier 2018	-	F	-	-	European	03y	-	-	-	DYT	Generalized dystonia and chorea, Global developmental delay	-	VPS13D	2	1	Inge Meijer
00230578	-	-	-	-	-	-	-	-	-	-	-	DYT	-	TOR1A	TOR1A	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00240409	FamA	PubMed: Heimer 2016	2-generation family, 1 affected	M	no	-	Jewish-Ashkenazi	-	-	-	-	DYT	see paper; …, onset dystonia early childhood, onset optic atrophy mid childhood, no intellectual disability; MRI bilateral hyperintense T2 signal putamen	MECR	MECR	2	1	Johan den Dunnen
00240410	FamB	PubMed: Heimer 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	-	Jewish-Ashkenaiz;Morocco;India	-	-	-	-	DYT	see paper; …, 15m-onset dystonia; no optic atrophy, no intellectual disability; MRI bilateral hyperintense pallidal T2 signal	MECR	MECR	2	1	Johan den Dunnen
00240411	FamCPatII2	PubMed: Heimer 2016	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	-	Jewish-Ashkenazi	-	-	-	-	DYT	see paper; …, 2y-3y-onset dystonia; 8y onset optic atrophy, no intellectual disability; MRI bilateral hyperintense T2 signal dorsal striatum	MECR	MECR	2	2	Johan den Dunnen
00240412	FamCPatII8	PubMed: Heimer 2016	Pat2	M	no	-	Jewish-Ashkenazi	-	-	-	-	DYT	see paper; …, 5y-onset dystonia; 12y onset optic atrophy, no intellectual disability	MECR	MECR	2	1	Johan den Dunnen
00240413	FamD	PubMed: Heimer 2016	2-generation family, 1 affected	F	no	Tunisia	-	-	-	-	-	DYT	see paper; …, 6y6m-onset dystonia; 6y6m-onset optic atrophy, no intellectual disability (mild concentration difficulties); MRI bilateral hyperintense T2 signal dorsal putamen	MECR	MECR	1	1	Johan den Dunnen
00240414	FamEPatII1	PubMed: Heimer 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	Anglo-Saxon	-	-	-	-	DYT	see paper; …, 23m-onset dystonia; 6y-onset optic atrophy; deterioration linguistic skills and executive functions to extremely low range (9y); MRI bilateral hyperintense pallidal T2 signal with cavitation and lactate peak on MRS	MECR	MECR	2	2	Johan den Dunnen
00240415	FamEPatII3	PubMed: Heimer 2016	Pat2	M	-	United Kingdom (Great Britain)	Anglo-Saxon	-	-	-	-	DYT	see paper; …, 3y-onset dystonia; 5y-onset optic atrophy; low average verbal comprehension with extremely low function on other WISC IV indices; MRI bilateral hyperintense pallidal T2 signal with lactate peak on MRS	MECR	MECR	2	1	Johan den Dunnen
00306236	patient	PubMed: Nakamura 2020	-	F	no	Japan	Japanese	-	-	-	-	DYT	see paper; ...	KMT2B	KMT2B	1	1	Tadashi Kaname
00313932	patient	PubMed: Bourinaris 2021, Journal: Bourinaris 2021	adopted	F	-	United Kingdom (Great Britain)	-	-	-	-	-	DYT	see paper; ..., neurodevelopmental anomalies, delayed motor milestones, abnormal social communication, language difficulties, borderline cognitive impairment; paroxysmal attacks of dystonia since early infancy	JPH3	JPH3	1	1	Stephanie Efthymiou
00324167	173221	-	-	F	-	-	-	-	-	-	-	DYT	(+) Dystonia,(+) Abnormality of extrapyramidal motor function , clinical suspicion of Segawa-syndrome	THAP1	THAP1	1	1	Andreas Laner
00386303	FamSPat416	PubMed: Fuchs 2009	3-generation family, 4 affected (2F, 2M)	F	-	Germany;United States	-	-	-	-	-	DYT	dystonia sites involve lower face, neck, larynx, tongue, jaw, right arm, left arm, right leg, left leg, trunk	THAP1	THAP1	1	4	Johan den Dunnen
00386304	FamSPat413	PubMed: Fuchs 2009	-	M	-	United States;Germany	-	-	-	-	-	DYT	dystonia sites involve upper face, lower face, neck, tongue, jaw, right arm, left arm, left leg, trunk	THAP1	THAP1	1	1	Johan den Dunnen

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Global Variome shared LOVD

AUTS2 (autism susceptibility candidate 2)