All individuals with variants in gene SGCE

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.

119 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	Variants	Panel size	Owner
00072203	25868953-FamPatIII2	PubMed: Wada 2015, Journal: Wada 2015	3-generation family, affected boy, father and uncle, asymptomatic heterozygous carrier grandfather	M	no	Japan	Japanese	>06y	-	-	-	DYT11	see paper; ..., delay in motor development (HP:0001270), dystonia (HP:0001332), myoclonus (HP:0001336)	1	4	Jamie Zeegers
00072225	24716024-FamPatII2	PubMed: Uruha 2014, Journal: Uruha 2014	3-generation family, 8-affecteds (5F, 3M)	F	no	Japan	Japanese	>42y	-	-	-	DYT11	psychiatric symptoms (HP:0000708), anxiety (HP:0000739), phobia (HP:?), jerking movement (HP:0007087), exaggerated startle response (HP:0002267)	1	8	Jamie Zeegers
00072226	26810467-Pat2	PubMed: Rocha 2016, Journal: Rocha 2016	family, patient’s father and two paternal uncles had alcohol-responsive myoclonus	M	-	Portugal	-	>20y	-	-	-	DYT11	upper limb muscle jerking (HP:0007087), dystonic posture (HP:0001332), laterocollis (HP:0000473)	1	1	Jamie Zeegers
00072230	24297365-FamPatIII3	PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014	3-generation family, 7 affecteds (2F, 4M, fetus), 4 unaffected heterozygous carriers (inherited maternally)	F	no	Norway	Norwegian	-	-	-	-	DYT11	upper limb and neck myoclonus (HP:0001336), no dystonia (HP:0001332), no seizures in childhood (-HP:0001250), generalized spike-wave activity (HP:0001326)	1	11	Jamie Zeegers
00072231	24297365-FamPatIII5	PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014	-	M	no	Norway	Norwegian	-	-	-	-	DYT11	upper limb myoclonus (HP:0001336), no dystonia (-HP:0001332), generalized tonic–clonic seizures (HP:0002069), generalized polyspike wave activity (HP:?)	1	1	Jamie Zeegers
00072232	24297365-FamPatIII8	PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014	-	M	-	Norway	Norwegian	-	-	-	-	DYT11	upper limb myoclonus (HP:0001336), no dystonia (-HP:0001332), febrile seizures (HP:0002373)	1	1	Jamie Zeegers
00072233	24297365-FamPatIII9	PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014	-	M	no	Norway	Norwegian	-	-	-	-	DYT11	upper limb and neck myoclonus (HP:0001336), no dystonia (-HP:0001332), no seizures in childhood (-HP:0001250), generalized tonic–clonic seizures (HP:0002069)	1	1	Jamie Zeegers
00072234	24297365-FamPatIII10	PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014	-	F	no	Norway	Norwegian	-	-	-	-	DYT11	upper limb, trunk and neck myoclonus (HP:0001336), cervical dystonia (HP:0000473), vocal dystonia (HP:?), no epilepsy (-HP:0001250), myoclonic jerks (HP:0001336)	1	1	Jamie Zeegers
00072236	24297365-FamPatIII11	PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014	-	M	-	Norway	Norwegian	-	-	-	-	DYT11	upper limb myoclonus (HP:0001336), vocal dystonia (HP:?), no epilepsy (-HP:0001250)	1	1	Jamie Zeegers
00072242	22026499-FamPatIII2	PubMed: Tedroff 2011, Journal: Tedroff 2011	2-generation family, 3 affecteds, unaffected heterozygous carrier parents	F	no	Sweden	-	>08y	-	-	-	DYT11	dependent of a walker (HP:?), diarrhoeas (HP:?), inability to control defecation (HP:?), myoclonic jerks (HP:0001336),	3	3	Jamie Zeegers
00072243	22026499-FamPatII3	PubMed: Tedroff 2011, Journal: Tedroff 2011	-	M	-	Sweden	-	-	-	-	-	DYT11	writer’s cramp (HP:0002356), that alcohol rather induced dystonia (HP:?)	3	1	Jamie Zeegers
00072244	22026499-FamPatI2	PubMed: Tedroff 2011, Journal: Tedroff 2011	-	F	no	Sweden	-	>50y	-	-	-	DYT11	hemidystonia (HP:?), myoclonal jerks (HP:0001336), interfered severely with balance (HP:0002141) and walking (HP:0002355), psychiatric disorder (HP:0000708), reduced myoclonus after alcohol intake (HP:?)	1	1	Jamie Zeegers
00100411	17394247-Fam	PubMed: Chung 2007, Journal: Chung 2007	5-generation family, 3 affected/6 probably affected (4F, 5M), paternal inheritance	F;M	no	Korea	-	-	-	-	-	DYT11	see paper; ..., MDS, bilateral carotid artery stenosis mimicking Moya–Moya disease	1	9	Johan den Dunnen
00100943	-	-	-	-	-	Germany	-	-	-	-	-	DYT11	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00132770	-	-	-	-	-	Germany	-	-	-	-	-	DDS1	dystonia, myoclonic (DYT-11)	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00133721	-	PubMed: Grabowski	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133722	-	PubMed: Grabowski	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133723	-	PubMed: Grabowski	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133724	-	PubMed: DeBerardinis	-	M	-	-	white	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133725	-	PubMed: Valente 2005	-	-	-	-	-	-	-	-	-	?	-	1	9	Johan den Dunnen
00133726	-	-	-	-	-	-	-	-	-	-	-	?	-	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	-	1	5	Johan den Dunnen
00133728	-	PubMed: Hedrich 2004, PubMed: Gerrits 2006	-	-	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133729	-	PubMed: Schule 2004	3 generation family (5affecteds)	-	-	-	-	-	-	-	-	DYT	-	1	5	Johan den Dunnen
00133730	-	PubMed: Tezenas 2005	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133731	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133732	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133733	-	PubMed: Tezenas 2005	-	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133734	-	PubMed: Tezenas 2005	5 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	5	Johan den Dunnen
00133735	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133736	-	PubMed: Cif	large family (7 affecteds)	-	-	-	-	-	-	-	-	DYT	-	1	7	Johan den Dunnen
00133737	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133738	-	PubMed: Tezenas 2005	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133739	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133740	-	PubMed: Asmus	-	-	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133741	-	PubMed: Valente 2005, OMIM:var0001	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133742	-	PubMed: Zimprich, OMIM:var0001	3 affecteds (2 male 1 F), east Bavaria	-	-	Germany	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133743	-	PubMed: Valente 2005, OMIM:var0001	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133744	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133745	-	PubMed: Tezenas 2005, {DB: Marechal}	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133746	-	PubMed: Tezenas 2005	-	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133747	-	PubMed: Han, OMIM:var0002	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133748	-	PubMed: Zimprich, OMIM:var0002	large family 7 affecteds (4 male 3 F), north Bavaria	-	-	Germany	-	-	-	-	-	DYT	-	1	7	Johan den Dunnen
00133749	-	PubMed: Hedrich 2004	unaffected carrier fathter	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133750	-	PubMed: Zimprich, OMIM:var0002	large family 8 affecteds (3 male 5 F), Prussia	-	-	Germany	-	-	-	-	-	DYT	-	1	8	Johan den Dunnen
00133751	-	PubMed: Han, OMIM:var0002	13 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	13	Johan den Dunnen
00133752	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133753	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133754	-	PubMed: Asmus	5 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	5	Johan den Dunnen
00133755	-	PubMed: Hedrich 2004, PubMed: Gerrits 2006	affected sister	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133756	-	PubMed: Tezenas 2005	5 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	5	Johan den Dunnen
00133757	-	PubMed: McNally	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133758	-	PubMed: Valente 2005	-	F	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133759	-	PubMed: Valente 2005	-	-	-	-	-	-	-	-	-	?	-	1	65	Johan den Dunnen
00133760	-	PubMed: Kock	identified in MDS patient (no pathogenic change identified)	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133761	-	PubMed: Valente 2005	-	-	-	-	-	-	-	-	-	?	-	1	9	Johan den Dunnen
00133762	-	PubMed: Zimprich, OMIM:var0004	4 affecteds (2 male 2 F)	-	-	Germany	-	-	-	-	-	DYT	-	1	4	Johan den Dunnen
00133763	-	PubMed: Marechal	4 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	4	Johan den Dunnen
00133764	-	PubMed: Tezenas 2005	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133765	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133766	-	PubMed: Asmus	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00133767	-	PubMed: Asmus 2005, OMIM:var0010	3 generation family (7 affecteds)	-	-	-	-	-	-	-	-	DYT	-	1	7	Johan den Dunnen
00133768	-	PubMed: Valente 2005	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133769	-	PubMed: Zimprich, OMIM:var0003	large family 11 affecteds (9 male 2 F)	-	-	Germany	-	-	-	-	-	DYT	-	1	11	Johan den Dunnen
00133770	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133771	-	PubMed: Klein, PubMed: Doheny OMIM:var0006	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133772	-	PubMed: Gerrits 2006	-	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133773	-	PubMed: Muller, PubMed: Kock	carrier father expresses normal allele only	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133774	-	PubMed: Asmus 2005, OMIM:var0011	2 affected sisters	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133775	-	Subm. Marechal	-	-	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133776	-	PubMed: Doheny	5 affecteds, change submitted by authors	-	-	-	-	-	-	-	-	DYT	-	1	5	Johan den Dunnen
00133777	-	PubMed: Asmus	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133778	-	PubMed: Tezenas 2005	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133779	-	PubMed: Gerrits 2006	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133780	-	PubMed: Tezenas 2005	-	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133781	-	PubMed: Zimprich	4 affecteds (3 male 1 F)	-	-	Germany	-	-	-	-	-	DYT	-	1	4	Johan den Dunnen
00133782	-	PubMed: Gerrits 2006	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133783	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133784	-	PubMed: Doheny	large family, 8 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	8	Johan den Dunnen
00133785	-	PubMed: Han	6 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	6	Johan den Dunnen
00133786	-	PubMed: Klein, OMIM:var0005	8 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	8	Johan den Dunnen
00133787	-	PubMed: Tezenas 2005	2 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133788	-	PubMed: Asmus	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133789	-	PubMed: Gerrits 2006	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133790	-	PubMed: Foncke, PubMed: Doheny, OMIM:var0007	5 generation family (5 affecteds)	-	-	-	-	-	-	-	-	DYT	-	1	5	Johan den Dunnen
00133791	-	PubMed: Gerrits 2006	-	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133792	-	PubMed: Muller	-	F	-	-	-	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00133793	-	PubMed: Schule 2004	3 generation family (6 affecteds)	-	-	-	-	-	-	-	-	DYT	-	1	6	Johan den Dunnen
00133794	-	PubMed: Hjermind, OMIM:var0008	2 related families (9 affecteds)	-	-	-	-	-	-	-	-	DYT	-	1	9	Johan den Dunnen
00133795	-	PubMed: Valente 2005, OMIM:var0009	-	F	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133796	-	PubMed: Tezenas 2005	3 affecteds	-	-	-	-	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00133797	-	PubMed: Valente 2005, OMIM:var0009	-	M	-	-	-	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00133798	-	-	-	-	-	Netherlands	-	-	-	-	-	DYT	-	1	1	Ieke Ginjaar
00133799	-	PubMed: Tezenas 2005	-	-	-	Netherlands	-	-	-	-	-	?	-	1	3	Ieke Ginjaar
00133800	-	PubMed: Tezenas 2005	-	-	-	France	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00133801	-	PubMed: Tezenas 2005	-	-	-	France	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00133802	-	PubMed: Muller	-	-	-	-	-	-	-	-	-	?	-	1	7	Johan den Dunnen
00133803	-	PubMed: Tezenas 2005	-	-	-	France	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00164425	-	-	-	F	-	(Germany)	-	-	-	-	-	?	Dystonia (HP:0001332); Myoclonus (HP:0001336)	1	1	IMGAG
00164725	-	-	-	F	-	(Germany)	-	-	-	-	-	?	HP:0001332 (Dystonia)	1	1	IMGAG

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Global Variome shared LOVD

SGCE (sarcoglycan, epsilon)