Disease #02569 (SCAN2;SCAR1;AOA2 (ataxia, spinocerebellar, autosomal recrecessive, with axonal neuropathy, type 2 (SCAR1, AOA2)), OMIM:606002)

Official abbreviation	SCAN2;SCAR1;AOA2
Name	ataxia, spinocerebellar, autosomal recrecessive, with axonal neuropathy, type 2 (SCAR1, AOA2)
OMIM ID	606002
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	74
Phenotype entries for this disease	74
Associated with 1 gene	SETX
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-06-27 12:16:23 +02:00 (CEST)

Individuals

Legend

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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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74 entries on 1 page. Showing entries 1 - 74.

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
00073108	-	ATX55	-	M	no	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Claire Guissart
00073111	-	ATX66	-	F	no	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Claire Guissart
00073114	-	ATX643	-	M	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Claire Guissart
00073117	-	ATX163	-	M	no	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Claire Guissart
00073187	-	ATX95	-	F	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Claire Guissart
00073207	-	PubMed: Moreira 2004	-	-	-	Algeria	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073208	-	PubMed: Moreira 2004	-	-	-	Algeria	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073209	-	PubMed: Moreira 2004	-	-	-	Canada	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073210	-	PubMed: Moreira 2004	-	-	-	Viet Nam	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073211	-	PubMed: Moreira 2004	-	-	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Johan den Dunnen
00073212	-	PubMed: Moreira 2004	-	-	-	France	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	4	1	Johan den Dunnen
00073213	-	PubMed: Moreira 2004	family, 2 affecteds	-	-	Portugal	Cabo Verde	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	2	Johan den Dunnen
00073214	-	PubMed: Moreira 2004	-	-	-	Portugal	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073215	-	PubMed: Moreira 2004	-	-	-	Spain	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Johan den Dunnen
00073216	-	PubMed: Moreira 2004	-	-	-	Turkey	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073217	-	PubMed: Moreira 2004	-	-	-	Japan	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073218	-	PubMed: Moreira 2004	-	-	-	Japan	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073219	-	PubMed: Moreira 2004	-	-	-	Pakistan	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073220	-	PubMed: Moreira 2004	family, 2 affecteds	-	-	Tunisia	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	2	Johan den Dunnen
00073221	-	PubMed: Moreira 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	2	1	Johan den Dunnen
00073225	-	PubMed: Duquette 2005	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073226	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073227	-	PubMed: Anheim 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073228	-	PubMed: Airoldi 2010	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073229	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073230	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073231	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073232	-	PubMed: Moreira 2004	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073233	-	PubMed: Moreira 2004	-	-	-	Turkey	-	-	-	-	-	SCAN2;SCAR1;AOA2	-	SETX	SETX	1	1	Johan den Dunnen
00073246	-	PubMed: Nakamura 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073247	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073248	-	PubMed: Airoldi 2010	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073251	-	PubMed: Arning 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073252	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073253	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073254	-	PubMed: Gazulla 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073255	-	PubMed: Schols 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073256	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073257	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073259	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	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	SETX	SETX	2	2	Johan den Dunnen
00073261	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073262	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073263	-	PubMed: Bernard 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073265	-	PubMed: Bernard 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073266	-	PubMed: Nicolaou 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073267	-	PubMed: Haack 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073268	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073269	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073270	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073271	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073273	-	PubMed: Fogel 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073274	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073275	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073276	-	PubMed: Fogel 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073277	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073278	-	PubMed: Anheim 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073279	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073280	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073281	-	PubMed: Bohlega 2011	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073282	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073283	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073284	-	PubMed: Chen 2006	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073285	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073286	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073287	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073288	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073289	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073290	-	PubMed: Anheim 2009	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073291	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073292	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073293	-	PubMed: Anheim 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00073295	-	PubMed: Bernard 2008	-	-	-	-	-	-	-	-	-	SCAN2;SCAR1;AOA2	ataxia-ocular apraxia 2	SETX	SETX	1	1	Johan den Dunnen
00391017	169715	-	-	F	no	Germany	-	-	-	-	-	SCAN2;SCAR1;AOA2	Ataxia, Progressive cerebellar ataxia,	SETX	SETX	2	1	Andreas Laner

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Global Variome shared LOVD

SMCHD1 (structural maintenance of chromosomes flexi...)