All individuals with variants in gene SETX

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.

160 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
00037044	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037045	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037046	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037047	-	-	-	-	-	Germany	-	-	-	-	-	?	stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie	1	1	Andreas Laner
00037048	-	-	-	-	-	Germany	-	-	-	-	-	?	stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie	1	1	Andreas Laner
00037049	-	-	-	-	-	Germany	-	-	-	-	-	?	stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie	1	1	Andreas Laner
00037050	-	-	-	-	-	Germany	-	-	-	-	-	?	stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie	1	1	Andreas Laner
00037051	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037052	-	-	-	-	-	Germany	-	-	-	-	-	?	stumbling in childhood, since many years hypotrophy lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie	1	1	Andreas Laner
00037053	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037054	-	-	-	-	-	Germany	-	-	-	-	-	?	stumbling in childhood, since many years hypotrophy of lower legs, pes cavus, Achilles tendon´s contracture, Pallhypästhesie	1	1	Andreas Laner
00037055	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037056	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037057	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037058	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037059	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037060	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037061	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected spinal muscle atrophy type Vulpian Duchenne Aran	1	1	Andreas Laner
00037062	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037063	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037064	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037065	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037066	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037067	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037068	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected cerebellar ataxia with progressive gait disorder	1	1	Andreas Laner
00037069	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037070	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected MND/ALS, cramps in the calf, atrophy of hand muscles left, paresis of dorsal flexor of the food (left)	1	1	Andreas Laner
00037071	-	-	-	-	-	Germany	-	-	-	-	-	?	oculomotor apraxia 2	1	1	Andreas Laner
00037072	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected MND/ ALS, cramps in the calf, atrophy of hand muscles left, paresis of dorsal flexor of the food (left)	1	1	Andreas Laner
00037073	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037074	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037075	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037076	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037077	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037078	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00073108	-	ATX55	-	M	no	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Claire Guissart
00073111	-	ATX66	-	F	no	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Claire Guissart
00073114	-	ATX643	-	M	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Claire Guissart
00073117	-	ATX163	-	M	no	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Claire Guissart
00073187	-	ATX95	-	F	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Claire Guissart
00073207	-	PubMed: Moreira 2004	-	-	-	Algeria	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073208	-	PubMed: Moreira 2004	-	-	-	Algeria	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073209	-	PubMed: Moreira 2004	-	-	-	Canada	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073210	-	PubMed: Moreira 2004	-	-	-	Viet Nam	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073211	-	PubMed: Moreira 2004	-	-	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Johan den Dunnen
00073212	-	PubMed: Moreira 2004	-	-	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	4	1	Johan den Dunnen
00073213	-	PubMed: Moreira 2004	family, 2 affecteds	-	-	Portugal	Cabo Verde	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	2	Johan den Dunnen
00073214	-	PubMed: Moreira 2004	-	-	-	Portugal	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073215	-	PubMed: Moreira 2004	-	-	-	Spain	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Johan den Dunnen
00073216	-	PubMed: Moreira 2004	-	-	-	Turkey	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073217	-	PubMed: Moreira 2004	-	-	-	Japan	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073218	-	PubMed: Moreira 2004	-	-	-	Japan	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073219	-	PubMed: Moreira 2004	-	-	-	Pakistan	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073220	-	PubMed: Moreira 2004	family, 2 affecteds	-	-	Tunisia	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	2	Johan den Dunnen
00073221	-	PubMed: Moreira 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	2	1	Johan den Dunnen
00073222	-	PubMed: Chen 2004	-	-	-	-	-	-	-	-	-	ALS4	juvenile	1	1	Johan den Dunnen
00073223	-	PubMed: Chen 2004	-	-	-	-	-	-	-	-	-	ALS4	juvenile	1	1	Johan den Dunnen
00073224	-	PubMed: Chen 2004	-	-	-	-	-	-	-	-	-	ALS4	juvenile	1	1	Johan den Dunnen
00073225	-	PubMed: Duquette 2005	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073226	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073227	-	PubMed: Anheim 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073228	-	PubMed: Airoldi 2010	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073229	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073230	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073231	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073232	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073233	-	PubMed: Moreira 2004	-	-	-	Turkey	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	1	1	Johan den Dunnen
00073234	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073235	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073236	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073237	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073238	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073239	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073240	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073241	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073242	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073243	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073244	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073245	-	from website {DBsub-Emory}	-	-	-	-	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00073246	-	PubMed: Nakamura 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073247	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073248	-	PubMed: Airoldi 2010	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073249	-	PubMed: Bassuk 2007	affected mother and daugther	F	no	United States	African American	-	-	-	-	?	frequent falls, oculomotor deficits, tremor; neither had peripheral neuropathy or 'head thrusting' associated with horizontal gaze, both classic findings in SCAR1	2	2	Johan den Dunnen
00073250	-	PubMed: Duquette 2005	-	-	-	-	-	-	-	-	-	?	ataxia with neuropathy	1	1	Johan den Dunnen
00073251	-	PubMed: Arning 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073252	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073253	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073254	-	PubMed: Gazulla 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073255	-	PubMed: Schols 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073256	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073257	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073258	-	PubMed: Zhao 2009	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00073259	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073260	-	PubMed: Asaka 2006	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents/sibs	M	yes	Japan	-	-	-	-	-	SCAN2;SCAR1;AOA2	late-teenage onset severe cerebellar ataxia with rapid progression, peripheral neuropathy, increased serum AFP, distal muscle atrophy, unclear oculomotor apraxia	2	2	Johan den Dunnen
00073261	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073262	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073263	-	PubMed: Bernard 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073264	-	PubMed: Hirano 2011	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00073265	-	PubMed: Bernard 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen
00073266	-	PubMed: Nicolaou 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	1	1	Johan den Dunnen

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

Global Variome shared LOVD

SETX (senataxin)