All individuals with variants in gene SEPN1

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.

348 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00037014	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037015	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Multi-Minicore-Myopathie	1	1	Andreas Laner
00037016	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Multi-Minicore-Myopathie	1	1	Andreas Laner
00037017	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037018	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037019	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037020	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037021	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037022	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00054671	-	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>22y	-	-	-	MDC	progressive course with loss of ambulation from 10y, mild facial weakness, scoliosis, restrictive lung disease; CPK mild elevation (57-503); histology dystrophic	1	1	Sandra Cooper
00104269	18348272.1	PubMed: Zirn 2008	-	F	-	Turkey	-	>7y	-	-	-	?	dysplasia, mandibuloacral, progeria, rigid spine muscular dystrophy; CPK 1808	1	1	Johan den Dunnen
00104270	?	-	-	M;F	-	Turkey	-	-	-	-	-	-	-	1	3	Johan den Dunnen
00104271	Pat1	PubMed: Okamoto 2006	first cousin parents	M	-	Japan	-	>41y	-	-	-	RSMD	delayed motor milestones, never jump or run, wheelchair bound 34y; IHC SEPN1 low, spotted aggregates; WB no SEPN1; CPK 590	2	1	Johan den Dunnen
00104272	Fam1809	PubMed: Moghadaszadeh 2001	-	?	-	Morocco	-	-	-	-	-	RSMD	-	1	3	Johan den Dunnen
00104273	Fam13369	PubMed: Moghadaszadeh 2001	-	?	-	Algeria	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104274	Fam12566	PubMed: Moghadaszadeh 2001	-	?	-	Iran	-	-	-	-	-	RSMD	-	1	2	Johan den Dunnen
00104275	FamE1	PubMed: Moghadaszadeh 2001	-	?	-	Iran	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104276	FamE13	PubMed: Moghadaszadeh 2001	-	?	-	Turkey	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104277	?	PubMed: D'Amico 2005	parents first cousins	F	-	Turkey	-	-	-	-	-	?	dropped head syndrome (DHS),w eak head control; w12m; CPK 1x	2	1	Johan den Dunnen
00104278	?	PubMed: Allamand 2006	-	?	-	France	-	-	-	-	-	RSMD	WB SEPN1 normal	2	1	Johan den Dunnen
00104279	FamT21	PubMed: Moghadaszadeh 2001	-	?	-	Turkey	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104280	FamT2	PubMed: Moghadaszadeh 2001	-	?	-	Turkey	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104281	?	PubMed: Tajsharghi 2005	-	M	no	Sweden	-	-	-	-	-	RSMD	s6m, w11m	2	1	Johan den Dunnen
00104282	FamE8	PubMed: Moghadaszadeh 2001	-	?	-	Italy	-	-	-	-	-	RSMD	-	2	2	Johan den Dunnen
00104283	Fam14961	PubMed: Moghadaszadeh 2001	-	?	-	France	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104284	FamT17	PubMed: Moghadaszadeh 2001, PubMed: Allamand 2006	-	?	-	Turkey	-	-	-	-	-	RSMD	WB SEPN1 faint	1	1	Johan den Dunnen
00104285	FamPatA1/Pat1	PubMed: Clarke 2006, PubMed: O'Grady 2016	2-generation family, 2 affected sisters, , unaffected heterozygous carrier parents	F	-	Australia	-	-	-	-	-	CMYO4A;CFTD	gross motor delay, deterioration with loss of ambulation, severe scoliosis; normal CK	2	2	Johan den Dunnen
00104286	16365872.B3	PubMed: Clarke 2006	sister of 16365872.B4,B5	F	-	Australia	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00104287	FamPatA2	PubMed: Clarke 2006	sister FamPatA1	F	-	Australia	-	-	-	-	-	CMYO4A;CFTD	WB SEPN1 normal	2	1	Johan den Dunnen
00104288	16365872.B4	PubMed: Clarke 2006	sister of 16365872.B3,B5	F	-	Australia	-	-	-	-	-	?	WB SEPN1 normal	2	1	Johan den Dunnen
00104289	16365872.B5	PubMed: Clarke 2006	sister of 16365872.B3,B4	F	-	Australia	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00104290	16365872.C6	PubMed: Clarke 2006	-	M	-	Australia	-	-	-	-	-	?	mulitminicore disease (MmD)	2	1	Johan den Dunnen
00104291	16365872.D7	PubMed: Clarke 2006	-	M	-	Australia	-	-	-	-	-	?	mulitminicore disease (MmD)	2	1	Johan den Dunnen
00104292	16365872.E8	PubMed: Clarke 2006	-	F	-	Australia	-	-	-	-	-	RSMD	-	1	1	Johan den Dunnen
00104293	?	PubMed: Allamand 2006	parents distant relatives; 3 affected sisters	F	-	Syria	-	>45y	-	-	-	RSMD	weak neck muscles infancy; WB SEPN1 faint; ambulant at 45y	2	4	Johan den Dunnen
00104294	Pat2	PubMed: Okamoto 2006	-	F	no	Japan	-	>31y	-	-	-	RSMD	IHC SEPN1 normal; WB SEPN1 reduced size; CPK 130	2	1	Johan den Dunnen
00104295	F1	PubMed: Ferreiro 2002	-	M	-	Germany	-	-	-	-	-	RSMD	neonatal hypotonia, poor head control, facial weakness; WB SEPN1 faint; w20m	1	1	Johan den Dunnen
00104296	F2a	PubMed: Ferreiro 2002	2-genertion family, 2 affected sisters	M	?	Italy	-	-	-	-	-	RSMD	neonatal hypotonia, respiratory failure at birth, facial weakness; WB SEPN1 faint; w13m	1	2	Johan den Dunnen
00104297	F2b	PubMed: Ferreiro 2002	sister F2a	F	?	Italy	-	-	-	-	-	RSMD	neonatal hypotonia, respiratory failure at birth, facial weakness; w15m	1	1	Johan den Dunnen
00104298	F3	PubMed: Ferreiro 2002	-	M	?	Belgium	-	-	-	-	-	RSMD	delayed motor milestones, feeding difficulties, facial weakness; w18m	1	1	Johan den Dunnen
00104299	F4	PubMed: Ferreiro 2002	-	M	?	Germany	-	-	-	-	-	RSMD	lack of head control, delayed motor milestones, facial weakness; w18m	1	1	Johan den Dunnen
00104300	FamI	PubMed: Ferreiro 2004	2-generation family, 2 affected (2M)	M	-	Belgium	-	-	-	-	-	MYOP	myopathy, desmin-related (DRM)	1	2	Johan den Dunnen
00104301	F5	PubMed: Ferreiro 2002	-	F	-	France	-	-	-	-	-	RSMD	neonatal hypotonia, weak suckling, lack of head control, facial weakness mild; WB SEPN1 faint; w15m	1	1	Johan den Dunnen
00104302	FamII	PubMed: Ferreiro 2004	11-generation family, 4 affected (2F, 2M), distant relatives, genetic isolate	F;M	yes	Germany	-	-	-	-	-	MYOP	myopathy, desmin-related, Mallory body-like inclusions	1	4	Johan den Dunnen
00104303	F6	PubMed: Ferreiro 2002	-	M	?	France	-	-	-	-	-	RSMD	poor head control, delayed motor milestones, failure to thrive, no facial weakness; w15m	2	1	Johan den Dunnen
00104304	F7a	PubMed: Ferreiro 2002	2-generation family, 2 affected brothers	M	-	Belgium	-	-	-	-	-	?	mulitminicore disease; lack of head control, poor motor performance, frequent falls, facial weakness mild; w18m	1	2	Johan den Dunnen
00104305	F7b	PubMed: Ferreiro 2002	brother of F7a	M	?	Belgium	-	-	-	-	-	?	mulitminicore disease; lack of head control, poor motor performance, frequent falls, facial weakness mild; w20m	1	1	Johan den Dunnen
00104306	F8a	PubMed: Ferreiro 2002	2-generation family, affected sister/brother	F	?	United Kingdom (Great Britain)	-	-	-	-	-	?	mulitminicore disease; failure to thrive, facial weakness mild; w18m	1	2	Johan den Dunnen
00104307	F8b	PubMed: Ferreiro 2002	brother of F8a	M	?	United Kingdom (Great Britain)	-	-	-	-	-	?	mulitminicore disease; failure to thrive, facial weakness mild; w13m	1	1	Johan den Dunnen
00104308	F9	PubMed: Ferreiro 2002	-	F	?	Germany	-	-	-	-	-	?	mulitminicore disease; neonatal hypotonia, weak suckling, lack of head control, facial weakness; w16m	2	1	Johan den Dunnen
00104309	F10a	PubMed: Ferreiro 2002	2-generation family, affected sister/brother	F	-	France	-	-	-	-	-	RSMD	neonatal hypotonia, poor head control, facial weakness; w14m	2	2	Johan den Dunnen
00104310	F10b	PubMed: Ferreiro 2002	brother of F10a	M	-	France	-	-	-	-	-	RSMD	neonatal hypotonia, poor head control, facial weakness; w14m	2	1	Johan den Dunnen
00104311	F11a	PubMed: Ferreiro 2002	2-genertion family, 2 affected sisters	F	?	Portugal	-	-	-	-	-	?	mulitminicore disease; poor head control, delayed motor milestones, respiratory insufficiency, facial weakness mild; w24m	1	2	Johan den Dunnen
00104312	F11b	PubMed: Ferreiro 2002	sister of F11a	F	?	Portugal	-	-	-	-	-	?	mulitminicore disease; congenital cervical scoliosis, no facial weakness; w14m	1	1	Johan den Dunnen
00104313	F12	PubMed: Ferreiro 2002	-	M	-	France	-	-	-	-	-	RSMD	delayed motor milestones, thorax deformity, facial weakness; w36m	2	1	Johan den Dunnen
00104314	?	PubMed: Venance 2005	-	M	no	Canada	-	-	-	-	-	RSMD	-	2	1	Johan den Dunnen
00104315	?	PubMed: Okamoto 2006	-	?	-	Japan	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00104316	?	PubMed: Okamoto 2006	-	?	-	Japan	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00104317	?	PubMed: Allamand 2006	-	?	-	France	-	-	-	-	-	-	-	1	279	Johan den Dunnen
00104318	?	PubMed: Allamand 2006	-	?	-	France	-	-	-	-	-	-	-	1	10	Johan den Dunnen
00104319	?	PubMed: Ferreiro 2004	-	?	-	France	-	-	-	-	-	-	-	1	262	Johan den Dunnen
00104320	?	PubMed: Allamand 2006	-	?	-	France	-	-	-	-	-	-	-	1	262	Johan den Dunnen
00104321	?	PubMed: Tajsharghi 2005	-	?	-	Sweden	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00104322	?	PubMed: Tajsharghi 2005	-	?	-	Sweden	-	-	-	-	-	-	-	1	16	Johan den Dunnen
00104323	?	PubMed: Tajsharghi 2005	-	?	-	Sweden	-	-	-	-	-	-	-	1	19	Johan den Dunnen
00104324	?	-	-	F	-	United States	African American	-	-	-	-	MYOP	-	1	1	Tom Winder
00104325	?	Ferreiro AJHG 71:739-749, 2002	-	F	-	United States	-	-	-	-	-	?	mulitminicore disease (MmD)	2	1	Tom Winder
00104326	?	-	-	M	-	United States	-	-	-	-	-	?	mulitminicore disease (MmD)	1	1	Tom Winder
00104327	?	-	-	F	-	United States	-	-	-	-	-	RSMD	-	1	1	Tom Winder
00104328	?	-	-	F	-	(United States)	Arab	-	-	-	-	RSMD	-	4	1	Tom Winder
00104329	?	-	-	F	-	United States	-	-	-	-	-	MYOP	-	1	1	Tom Winder
00104330	?	-	-	F	-	United States	-	-	-	-	-	MYOP	-	1	1	Tom Winder
00104331	?	-	-	-	-	United States	-	-	-	-	-	?	mulitminicore disease (MmD)	2	1	Tom Winder
00104332	?	-	-	-	-	United States	-	-	-	-	-	MYOP	-	2	1	Tom Winder
00104333	?	-	-	M	-	United States	-	-	-	-	-	RSMD	-	2	1	Tom Winder
00104334	?	-	-	M	-	United States	-	-	-	-	-	RSMD	-	2	1	Tom Winder
00104335	?	-	-	M	-	United States	-	-	-	-	-	?	-	2	1	Tom Winder
00104336	?	-	-	F	-	Saudi Arabia	-	-	-	-	-	RSMD	mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)	2	1	Shu Yau
00104337	?	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	RSMD	mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)	2	1	Shu Yau
00104338	?	-	-	F	-	Switzerland	-	-	-	-	-	RSMD	mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)	2	1	Shu Yau
00104339	?	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	RSMD	mulitminicore disease/RSMD-1?	1	1	Shu Yau
00104340	?	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	RSMD	mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)	2	1	Shu Yau
00104341	?	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	RSMD	mulitminicore disease/RSMD-1?	1	1	Shu Yau
00104342	?	-	-	F	-	Spain	-	-	-	-	-	RSMD	mulitminicore disease/RSMD-1?	1	1	Shu Yau
00104343	?	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	RSMD	mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)	2	1	Shu Yau
00104344	?	-	-	M	-	Belgium	-	-	-	-	-	RSMD	mulitminicore disease/RSMD-1?	1	1	Shu Yau
00104345	?	-	-	M	-	United States	-	-	-	-	-	RSMD	-	2	1	Tom Winder
00104346	?	-	-	F	-	(United States)	-	-	-	-	-	?	myopathy	2	1	Tom Winder
00104347	?	-	-	M	-	(United States)	-	-	-	-	-	RSMD	-	2	1	Tom Winder
00104348	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	-	2	1	Johan den Dunnen
00104349	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	-	2	1	Johan den Dunnen
00104350	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	-	2	1	Johan den Dunnen
00104351	?	PubMed: Maiti 2009	sister died of similar symptoms	F	-	-	-	5y6m	-	-	-	RSMD	severe, scoliosis 1y, died of restrictive respiratory failure; w14m	2	1	Johan den Dunnen
00104352	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	-	1	5	Johan den Dunnen
00104353	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	SelN level <5%	2	1	Johan den Dunnen
00104354	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	SelN level 20%	2	1	Johan den Dunnen
00104355	?	PubMed: Maiti 2009	-	?	-	-	-	-	-	-	-	RSMD	-	2	1	Johan den Dunnen
00104356	Pat1	PubMed: Schara 2008	2-generation family, 2 affected sibs	M	-	Germany	-	-	-	-	-	RSMD	6y-scoliosis, rigid spine syndrome; 8y-proximal muscle weakness, no progression, walk >4000m	1	2	Johan den Dunnen
00104357	Pat2	PubMed: Schara 2008	sibling of Pat1	F	-	Germany	-	-	-	-	-	RSMD	myopathic with cores; 11y-scoliosis, rigid spine syndrome; 18y-proximal muscle weakness, no progression, walk 30004000m; 13y-ventilation 2-4h/night; FVC 13y 18%	1	1	Johan den Dunnen
00104358	Pat3	PubMed: Schara 2008	2-generation family, 2 affected sibs	F	-	Germany	-	-	-	-	-	RSMD	12y-scoliosis, rigid spine syndrome; 14y-proximal muscle weakness, no progression, walk 1000m; not ventilated; FVC 13y 44%	2	2	Johan den Dunnen

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Global Variome shared LOVD

SEPN1 (selenoprotein N, 1)