Disease #04235 (FSHD (dystrophy, muscular, facioscapulohumeral (FSHD)))

Official abbreviation	FSHD
Name	dystrophy, muscular, facioscapulohumeral (FSHD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	148
Phenotype entries for this disease	132
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-04-04 18:14:08 +02:00 (CEST)
Date last edited	N/A

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
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Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
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Bahrain
(Bahrain)
Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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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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148 entries on 2 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00037655	-	PubMed: Sacconi 2013	SB_Fse(18%), 4qA[9], 3-generation family, affected father affected son	M	no	France	-	-	-	-	-	FSHD	dystrophy, muscular, facioscapulohumeral, type 1 and 2 (FSHD-1 and 2); digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037719	-	PubMed: Winston 2014	SB_Fse(43%)	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	FSHD like	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Jincy Winston
00059205	-	PubMed: van den Boogaard 2016	-	M	no	Finland	-	-	-	-	-	FSHD	-	-	DNMT3B	1	1	Marlinde L. van den Boogaard
00059223	-	PubMed: van den Boogaard 2016	-	F	no	Netherlands	-	?	-	-	-	FSHD	-	-	DNMT3B	1	1	Marlinde L. van den Boogaard
00059225	-	PubMed: van den Boogaard 2016	-	M	no	Netherlands	-	?	-	-	-	FSHD	-	-	DNMT3B	1	1	Marlinde L. van den Boogaard
00123389	-	PubMed: Korngut 2008	-	M	-	Canada	-	-	-	-	-	DMD, FSHD	fetal movements redyced, 18m-generalized weakness, shoulder girdle involvement, 5y-symmetrical facial weakness; elevated serum CPK (HP:0003236) 2639	DMD	DMD	1	1	Johan den Dunnen
00123604	-	PubMed: Rudnik-Schoneborn 2008	31 Kb EcoRI D4Z4, inherited from non-symptomatic father	M	-	Germany	-	-	-	-	-	BMD, FSHD	does not read, write; elevated serum CPK (HP:0003236) 3251-7360; no intellectual disability (-HP:0001249) IQ86; sit-8m, walk1y5m	DMD	DMD	1	1	Johan den Dunnen
00183264	ASHG2018-P1192	Lazar ASHG2018 P1192	-	F	no	Brazil	-	-	-	-	-	FSHD	..., muscle weakness, proximal tetraparesis, EMG myopathic	DAG1, GMPPB, POMT2	DAG1, GMPPB, POMT2	3	1	Johan den Dunnen
00214661	-	Ginjaar, WMS2008	-	M	-	Netherlands	-	-	-	-	-	FSHD	CPK elevated (HP:0003236) 6700	CAPN3	CAPN3	2	1	Ieke Ginjaar
00216818	20848652_Pat61	PubMed: Scherner 2011	-	M	-	United States	-	-	-	-	-	FSHD	severe	LMNA	LMNA	1	1	Johan den Dunnen
00245434	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245437	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245440	-	PubMed: Lemmers 2019	-	F	-	Canada	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245441	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245442	-	PubMed: Lemmers 2019	-	M	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245443	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245444	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245445	-	PubMed: Lemmers 2019	-	M	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245446	-	PubMed: Lemmers 2019	-	M	-	Italy	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245447	-	PubMed: Lemmers 2019	-	M	-	Canada	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245448	-	PubMed: Lemmers 2019	-	M	-	Canada	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245449	-	PubMed: Lemmers 2019	-	M	-	Canada	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245450	-	PubMed: Lemmers 2019	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245452	-	PubMed: Lemmers 2019	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245455	-	Smith 2015, ASHG conference, PubMed: Lemmers 2019	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245456	-	PubMed: Lemmers 2019	-	M	-	Turkey	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245457	-	Smith 2015, ASHG conference, PubMed: Lemmers 2019	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245458	-	PubMed: Mul 2018	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245460	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245461	-	PubMed: Mul 2018	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245462	-	PubMed: Mul 2018	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245463	-	PubMed: Mul 2018	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245464	-	PubMed: Lemmers 2019	-	M	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245465	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245466	-	PubMed: Lemmers 2019	-	F	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245469	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245470	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245471	-	PubMed: Mul 2018	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245472	-	PubMed: Lemmers 2019	-	F	-	Norway	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245473	-	PubMed: Lemmers 2019	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245474	?, PatIV	PubMed: Lemmers 2019, PubMed: Strafella 2019, Journal: Strafella 2019	-	F	-	Italy	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245477	-	PubMed: Lemmers 2019	-	M	-	Mexico	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245478	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245479	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245482	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245483	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245484	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245486	-	PubMed: Lemmers 2019	-	F	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245487	-	PubMed: Lemmers 2019	-	M	-	Russia	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245488	-	PubMed: Nguyen 2017	-	M	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245489	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245490	-	PubMed: Mul 2018	-	F	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245491	-	Smith 2015, ASHG conference, PubMed: Lemmers 2019	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245494	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245495	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245496	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245498	-	PubMed: Lemmers 2019	-	M	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245499	-	PubMed: Lemmers 2019	-	M	-	Iran	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245502	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245504	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245505	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245506	-	PubMed: Lemmers 2019	-	F	-	Korea	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245510	-	PubMed: Lemmers 2019	-	M	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245511	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245512	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245514	?, PatII	PubMed: Lemmers 2019, PubMed: Strafella 2019, Journal: Strafella 2019	-	M	-	Italy	-	-	-	-	-	FSHD	Clinical Severity Score 3	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245515	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245517	-	PubMed: Lemmers 2019	-	M	-	Bulgaria	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245518	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245519	-	PubMed: Lemmers 2019	-	F	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245520	-	PubMed: Lemmers 2019	-	F	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245521	-	PubMed: Lemmers 2019	-	M	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245522	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245524	-	PubMed: Lemmers 2019	-	F	-	Iran	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245526	-	PubMed: Lemmers 2019	-	M	-	Denmark	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245527	-	PubMed: Lemmers 2019	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245528	-	PubMed: Lemmers 2019	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245531	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	2	1	Richard Lemmers
00245532	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	2	1	Richard Lemmers
00245533	-	PubMed: Lemmers 2019	-	F	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	2	1	Richard Lemmers
00245534	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245535	-	PubMed: Lemmers 2019	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245537	-	PubMed: Lemmers 2019	-	M	-	Denmark	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245538	-	PubMed: Lemmers 2019	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245539	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245541	-	PubMed: Lemmers 2019	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245543	?, PatVI	PubMed: Lemmers 2019, PubMed: Strafella 2019, Journal: Strafella 2019	-	M	-	Italy	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245544	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245546	-	PubMed: Lemmers 2019	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245547	-	PubMed: Lemmers 2019	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245548	-	PubMed: Lemmers 2019	-	F	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	PKHD1, SMCHD1	2	1	Richard Lemmers
00245549	-	PubMed: Lemmers 2019	-	M	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245550	-	PubMed: Lemmers 2019	-	M	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245552	-	PubMed: Lemmers 2019	-	M	-	United States	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245553	-	PubMed: Lemmers 2019	-	M	-	Argentina	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245555	-	PubMed: Lemmers 2019	-	M	-	Netherlands	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245556	?, PatIII	PubMed: Lemmers 2019, PubMed: Strafella 2019, Journal: Strafella 2019	-	F	-	Italy	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245557	-	PubMed: Lemmers 2019	-	M	-	Argentina	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245560	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers
00245561	-	PubMed: Lemmers 2019	-	F	-	France	-	-	-	-	-	FSHD	-	SMCHD1	SMCHD1	1	1	Richard Lemmers

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Global Variome shared LOVD

NPHP4 (nephronophthisis 4)