Disease #02076 (SACS (ataxia, spastic, Charlevoix-Saguenay type (SACS)), OMIM:270550)

Official abbreviation	SACS
Name	ataxia, spastic, Charlevoix-Saguenay type (SACS)
OMIM ID	270550
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	100
Phenotype entries for this disease	99
Associated with 1 gene	SACS
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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.

100 entries on 1 page. Showing entries 1 - 100.

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
00058513	-	-	-	M	no	Brazil	-	-	-	-	-	SACS, SRTD12	-	IFT122	IFT122	3	1	Karina Silveira
00059237	-	-	family, 2 affecteds	M	yes	(France);Sudan	-	-	-	yes	-	SACS	ataxia, lower limb spasticity, muscle wasting, dysarthria, congnitive impairment, loss of vibration sensation	-	SACS	1	2	Mahmoud Koko
00144685	18398442-Pat1	PubMed: Breckpot 2008	-	M	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144688	II-1	PubMed: Terracciano 2010	-	F	?	United Kingdom (Great Britain)	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144689	III-1	PubMed: Terracciano 2010	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144690	23250129-Pat11	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144691	1	PubMed: McMillan 2009	-	F	no	Canada	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144696	20876471-PatSL66.1	PubMed: Baets 2010	-	-	?	Hungary	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144697	20876471-PatPN53.1	PubMed: Baets 2010	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	3	1	Bernard Brais
00144698	23250129-Pat9	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144699	23250129-Pat14	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144702	18484239-Pat1	PubMed: Kamada 2008	-	-	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144703	?	PubMed: Kamada 2008	-	-	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144705	20876471-PatSL467.1	PubMed: Baets 2010	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144706	23250129-Pat6	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144707	23250129-Pat7	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144708	23250129-Pat17	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144720	17290461-Fam1Pat1	PubMed: Takado 2007	family, 2 affecteds	M	yes	Japan	-	-	-	-	-	SACS	-	SACS	SACS	2	2	Bernard Brais
00144721	17290461-Fam1Pat2	PubMed: Takado 2007	family, 2 affecteds	F	yes	Japan	-	-	-	-	-	SACS	-	SACS	SACS	2	2	Bernard Brais
00144722	18465152-Fam13	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144723	18465152-Fam15	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144724	22816526-PtP1506	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144725	SACS_15	PubMed: Ouyang 2006	-	-	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144726	23250129-Pat10	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144727	22816526-PtPPS232	PubMed: Prodi 2013	-	-	-	Italy	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144735	1	PubMed: Anheim 2008	-	?	no	France	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144740	SACS_16	PubMed: Ouyang 2006	-	-	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144743	18465152-Fam06	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144747	22806526-PtP994	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144748	Pt1	PubMed: Blumkin 2015	-	-	no	-	Jewish-Ashkenazi	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144755	20876471-PatPN831.3	PubMed: Baets 2010	family, 2 affecteds	-	no	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	3	2	Bernard Brais
00144758	SACS_09	{PMID12873855 :El Euch-Fayache 2003}	-	-	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144760	20876471-PatNG8.1	PubMed: Baets 2010	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144761	21745802-III-5	PubMed: Narayanan 2011	-	-	?	United States	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144762	21745802-PtIII-6	PubMed: Narayanan 2011	-	-	?	United States	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144763	SACS_06	{PMID12873855 :El Euch-Fayache 2003}	-	-	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144767	SACS_26	PubMed: Ouyang 2008	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144770	SACS_10	PubMed: Criscuolo 2004	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144771	SACS_17	PubMed: Okawa 2006	-	-	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144772	SACS_01	PubMed: Grieco 2004	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144776	22816526-PtP1743	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144777	SACS_18	PubMed: Richter 2004	-	-	?	Turkey	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144781	23250129-Pat15	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144783	22816526-PtHMSN2051	PubMed: Prodi 2013	-	-	-	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144784	20876471-PatPN751.3	PubMed: Baets 2010	-	-	?	Serbia	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144785	23250129-Pat1	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144786	23250129-Pat2	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144787	23250129-Pat3	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144788	23250129-Pat4	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144789	23250129-Pat5	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144791	22816526-PtP772	PubMed: Prodi 2013	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144792	Fam6/Pt1-2-3	PubMed: Brahim 2011	-	-	?	Algeria	-	-	-	-	-	SACS	-	SACS	SACS	1	3	Bernard Brais
00144794	Fam5	PubMed: Vermeer 2008	-	-	yes	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Johan den Dunnen
00144795	18465152-Fam12	PubMed: Vermeer 2008	-	-	?	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144796	18465152-Fam03	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144800	Pt2	PubMed: Anesi 2011	-	-	no	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144803	SACS_02	{PMID12873855 :El Euch-Fayache 2003}	-	-	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144804	23250129-Pat12	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144805	?	{PMID12873855 :El Euch-Fayache 2003}	-	-	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144807	18465152-Fam04	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144809	23250129-PatA	PubMed: Thiffault 2012	-	-	?	Canada	French-Italian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144810	17516465-Fam1Pat1	PubMed: Hara 2007	family, 2 affecteds	M	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	2	2	Bernard Brais
00144811	17516465-Fam1Pat2	PubMed: Hara 2007	family, 2 affecteds	F	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	2	2	Bernard Brais
00144812	Fam5/Pt1-2	PubMed: Brahim 2011	-	-	?	Algeria	-	-	-	-	-	SACS	-	SACS	SACS	1	2	Bernard Brais
00144814	SACS_11	PubMed: Grieco 2004	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144818	SACS_08	PubMed: Grieco 2004	-	-	?	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144821	Fam3/Pt1-2	PubMed: Brahim 2011	-	-	?	Algeria	-	-	-	-	-	SACS	-	SACS	SACS	1	2	Bernard Brais
00144822	20876471-PatNG17.1	PubMed: Baets 2010	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144825	SACS_03	PubMed: Engert 2000	-	-	?	Canada	French	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144826	SACS_46	PubMed: Anheim 2008	-	-	?	France	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144827	SACS_24	PubMed: Criscuolo 2005	-	-	?	Spain	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144831	18465152-Fam09	PubMed: Vermeer 2008	-	-	yes	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144833	SACS_07	PubMed: Engert 2000	-	-	?	Canada	French	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144834	23250129-Pat8	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144835	23250129-Pat13	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144836	?	PubMed: Engert 2000	-	-	?	Canada	Québec	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144837	Pt1	-	-	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144841	SACS_04	PubMed: Ogawa 2004	-	-	?	Japan	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144843	18465152-Fam16	PubMed: Vermeer 2008	-	-	no	-	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144844	Fam2/Pt1-2	PubMed: Brahim 2011	-	-	?	Algeria	-	-	-	-	-	SACS	-	SACS	SACS	1	2	Bernard Brais
00144845	SACS_20	PubMed: Richter 2004	-	-	?	Turkey	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144846	20876471-PatPN26.1	PubMed: Baets 2010	family, 4 affecteds	-	no	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	3	4	Bernard Brais
00144847	20876471-PatPN587.1	PubMed: Baets 2010	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	4	1	Bernard Brais
00144851	23250129-Pat16	PubMed: Thiffault 2012	-	-	?	Canada	French Canadian	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144859	SACS_21	PubMed: Richter 2004	-	-	?	Turkey	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144860	22892508-Pt1	PubMed: Miyatake 2012	-	-	yes	Japan	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144861	18465152-Fam01	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144862	18465152-Fam08	PubMed: Vermeer 2008	-	-	yes	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144863	18465152-Fam10	PubMed: Vermeer 2008	-	-	?	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144864	18465152-Fam14	PubMed: Vermeer 2008	-	-	no	Netherlands	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144865	SACS_05	{PMID12873855 :El Euch-Fayache 2003}	-	-	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144867	22816526-PtP978	PubMed: Prodi 2013	-	-	-	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144868	22816526-PtP1824	PubMed: Prodi 2013	-	-	-	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144871	IV:1	PubMed: Bouhlal 2009	-	M	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144878	20876471-PatSL434.1	PubMed: Baets 2010	-	-	?	Belgium	-	-	-	-	-	SACS	-	SACS	SACS	2	1	Bernard Brais
00144879	Pt1	PubMed: Anesi 2011	-	-	no	Italy	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144880	PtIV:1	PubMed: Bouhlal 2011	-	M	?	Tunisia	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00144884	SACS_22	PubMed: Richter 2004	-	-	?	Turkey	-	-	-	-	-	SACS	-	SACS	SACS	1	1	Bernard Brais
00404116	-	-	-	M	-	Egypt	-	-	-	-	-	SACS	30-y male with progressive cerebellar ataxia, weakness and wasting of upper and lower limbs marked in hands and feet, stocking and glove hypesthesia, deep sensory loss, Babinski sign and bilateral pes cavus	SACS	SACS	1	1	Sherifa Ahmed Hamed
00404121	-	-	-	M	yes	Egypt	-	-	-	-	-	SACS	18-y male with progressive ataxia, peripheral neuropathy, Babinski sign, pes cavus and mental retardation. He had delayed physical and mental development.	SACS	SACS	1	1	Sherifa Ahmed Hamed

Legend

How to query

Global Variome shared LOVD

YES1 (v-yes-1 Yamaguchi sarcoma viral oncogene homo...)