All individuals with variants in gene SYNE1

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.

946 entries on 10 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10		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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00039409	Pat22;Pat5	PubMed: Bosch 2016, Journal: Bosch 2016, PubMed: Fregeau 2016	2 generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Netherlands	-	-	-	-	-	CVI, ID	see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; seizures; no hypotonia; no behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; deeply set eyes; blepharaophymosis; abnormal ears; no preauricular pits; bulbous nose; no anteverted nares; no flat philtrum; full lips; no small mouth; no furrowed tongue; abnormal teeth; broad alveolar ridges; high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; no abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots	2	1	Danielle Bosch
00065136	SIDS075	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	F	?	Switzerland	Europe	00y03m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00065148	SIDS156	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	F	?	Switzerland	Europe	00y02m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00079571	-	PubMed: Puckelwartz 2009	mouse model (in vivo)	-	-	-	-	-	-	-	-	?	50% mice dye at or near birth from respiratory failure; surviving mice EDMD-like phenotype (progressive hind limb weakness, kyphoscoliosis, muscle pathology, cardiac conduction defects)	1	1	Johan den Dunnen
00079578	-	-	-	-	-	Canada	-	-	-	-	-	SCAR8	-	2	1	Tom Winder
00079579	-	PubMed: Gros-Louis 2007	-	-	-	Canada	-	-	-	-	-	SCAR8	-	4	1	Johan den Dunnen
00079580	-	PubMed: Zhang 2007	Fam1	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	EDMD4	-	1	1	Johan den Dunnen
00079581	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	1	Johan den Dunnen
00079582	-	PubMed: Zhang 2007	Fam3	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	EDMD4	almost asymptomatic; CPK raised	1	1	Johan den Dunnen
00079583	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	1	Johan den Dunnen
00079584	-	PubMed: Zhang 2007	Fam2	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	EDMD5	muscular dystrophy, severe dilated cardiomyopathy requiring heart transplantation 26y	1	1	Johan den Dunnen
00079585	-	PubMed: Zhang 2007	father of G-11774	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079586	-	PubMed: Gros-Louis 2007	4-generation family, 4 affecteds	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	4	Johan den Dunnen
00079587	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	1	Johan den Dunnen
00079588	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	20	Johan den Dunnen
00079589	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	11	Johan den Dunnen
00079590	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	6	Johan den Dunnen
00079591	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	1	Johan den Dunnen
00079592	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	4	Johan den Dunnen
00079593	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	3	Johan den Dunnen
00079594	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	2	1	Johan den Dunnen
00079595	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	1	1	Johan den Dunnen
00079596	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	1	1	Johan den Dunnen
00079597	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	1	3	Johan den Dunnen
00079598	-	PubMed: Dupre 2007	-	-	-	Canada	French Canadian	-	-	-	-	SCAR8	-	1	1	Johan den Dunnen
00079599	-	PubMed: Zhang 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079600	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079601	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079602	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079603	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079604	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079605	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079606	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079607	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079608	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079609	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079610	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079611	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079612	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079613	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079614	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079615	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079616	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079617	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079618	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079619	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079620	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079621	-	PubMed: Gros-Louis 2007	-	-	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00079622	-	PubMed: Attali 2009	4-generation family, 4 affecteds	-	-	Palestine	-	-	-	-	-	arthrogryposis	myogenic arthrogryposis multiplex congenita (AMC)	2	4	Johan den Dunnen
00079628	-	-	family, 2 affecteds	M	-	Iran	-	-	-	-	-	arthrogryposis	autosomal recessive form of myogenic arthrogryposis multiplex congenita (AMC)	2	2	Zohreh Fattahi
00079635	-	PubMed: Baumann 2017, Journal: Baumann 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Austria	Turkey	-	-	-	-	DA	see paper; ...	1	1	Andreas Janecke
00134050	-	-	-	F	-	(Germany)	-	-	-	-	-	?	HP:0001258 (Spastic paraplegia)	1	1	IMGAG
00150165	26539891-FamBAB5723	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	intellectual diability, microcephaly, hypoplasia of the brain stem and cerebellum, delayed myelination	2	1	Johan den Dunnen
00164647	24123876-FamW10-1137	PubMed: Schuurs-Hoeijmakers 2013	2-generation family, affected sister/brother, unaffected carrier parents	F;M	no	Netherlands	-	-	-	-	-	ID	spastic paraplegia, axon neuropathy, leukoencephalopathy, hypoplastic corpus callosum (female only); mild intellectual disability (HP:0001256)	3	2	Johan den Dunnen
00165289	-	-	-	F	-	Germany	-	-	-	-	-	SCAR8	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00207916	VI:17	-	-	M	no	Spain	Canarian Island	70y	-	-	-	ataxia	-	1	31	Carmen Palma
00219467	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219480	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219520	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219530	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219538	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219542	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219550	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219552	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219554	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219556	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219559	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219561	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219562	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219563	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219567	30564623-Pat	PubMed: Nallamilli 2018	-	M	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219569	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219582	30564623-Pat	PubMed: Nallamilli 2018	-	F	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219586	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219588	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219591	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219593	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219597	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219605	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219610	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219622	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219624	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219633	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219635	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219637	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219646	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219649	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219652	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219656	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219659	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219664	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219665	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219666	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219667	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219668	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219671	30564623-Pat	PubMed: Nallamilli 2018	-	M	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219673	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	2	1	Madhuri Hegde
00219677	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00219683	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde

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Global Variome shared LOVD

SYNE1 (spectrin repeat containing, nuclear envelope 1)