Disease #00218 (IBMPFD1 (myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia, type 1), OMIM:167320)

Official abbreviation	IBMPFD1
Name	myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia, type 1
OMIM ID	167320
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	62
Phenotype entries for this disease	20
Associated with 1 gene	VCP
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-10-02 11:35:03 +02:00 (CEST)
Date last edited	2023-11-03 18:38:39 +01:00 (CET)

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
(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
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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

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Operator	Column type	Example	Matches
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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'
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!=""	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
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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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62 entries on 1 page. Showing entries 1 - 62.

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
00003018	Pat10mov;Pat19	PubMed: Neveling 2013, PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016	-	M	-	-	-	-	-	-	-	IBMPFD1	hereditary spastic paraplegia	VCP	VCP	1	1	Marcel Nelen
00146423	15034582-Fam1	PubMed: Watts 2004, OMIM:var0001	6-generation family, 29 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	29	Johan den Dunnen
00146424	15034582-Fam3	PubMed: Watts 2004, OMIM:var0001	4-generation family, 8 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	8	Johan den Dunnen
00146425	15034582-Fam7	PubMed: Watts 2004, OMIM:var0001	3-generation family, 10 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	10	Johan den Dunnen
00146426	15034582-Fam16	PubMed: Watts 2004, OMIM:var0001	4-generation family, 6 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	6	Johan den Dunnen
00146427	15034582-Fam2	PubMed: Watts 2004, OMIM:var0002	6-generation family, 20 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	20	Johan den Dunnen
00146428	15034582-Fam5	PubMed: Watts 2004, OMIM:var0002	4-generation family, 11 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	11	Johan den Dunnen
00146429	15034582-Fam4	PubMed: Watts 2004, OMIM:var0001	4-generation family, 12 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	12	Johan den Dunnen
00146430	15034582-Fam6	PubMed: Watts 2004, OMIM:var0003	3-generation family, 3 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Johan den Dunnen
00146431	15034582-Fam9	PubMed: Watts 2004, OMIM:var0004	5-generation family, 6 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	6	Johan den Dunnen
00146432	15034582-Fam10	PubMed: Watts 2004, OMIM:var0001	5-generation family, 6 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	6	Johan den Dunnen
00146433	15034582-Fam11	PubMed: Tucker 1982	5-generation family, 9 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	9	Johan den Dunnen
00146434	15034582-Fam13	PubMed: Watts 2004, OMIM:var0006	4-generation family, 4 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	4	Johan den Dunnen
00146435	15034582-Fam15	PubMed: Watts 2004, OMIM:var0001	4-generation family, 8 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	8	Johan den Dunnen
00146436	18341608-Fam1	PubMed: Viassolo 2008	5-generation family, 8 affecteds	-	-	Italy	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	8	Johan den Dunnen
00146437	16247064-FamA	PubMed: Haubenberger 2005	2-generation family, 5 affecteds	-	-	Austria	-	-	-	-	-	IBMPFD1	no frontotemporal dementia(>60y)	VCP	VCP	1	5	Johan den Dunnen
00146438	19704082-DR7.P4	PubMed: van der Zee 2009	4-generation family, 6 affecteds	-	-	Belgium	-	-	-	-	-	IBMPFD1	clinical heterogeneity and variable penetrance	VCP	VCP	1	6	Johan den Dunnen
00146439	19704082-DR40.P2	PubMed: van der Zee 2009	2-generation family, 4 affecteds	-	-	Belgium	-	-	-	-	-	IBMPFD1	clinical heterogeneity and variable penetrance	VCP	VCP	1	4	Johan den Dunnen
00146444	?	-	-	-	no	Japan	Japanese	-	-	-	-	IBMPFD1	able to walk, CPK 714 IU/l	VCP	VCP	1	1	Shiro Matsubara
00149281	-	-	-	-	-	United States	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149282	-	-	-	-	-	United States	white (Northern European Ancestry)	69y	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00149283	-	-	-	-	-	United States	white (Northern European Ancestry)	63y	-	-	-	IBMPFD1	-	VCP	VCP	1	7	Marc Cruts
00149284	-	-	No dementia	-	-	United States	white (Northern European Ancestry)	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149285	-	-	-	-	-	United States	white (Northern European Ancestry)	-	-	-	-	IBMPFD1	-	VCP	VCP	1	4	Marc Cruts
00149286	-	-	-	-	-	United States	white	64y04m	-	-	-	IBMPFD1	-	VCP	VCP	1	5	Marc Cruts
00149287	-	-	No dementia	-	-	United States	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149288	-	-	-	-	-	United States	white (Scottish Ancestry)	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149289	-	-	-	-	-	United States	white (Northern European Ancestry)	60y04m	-	-	-	IBMPFD1	-	VCP	VCP	1	4	Marc Cruts
00149290	-	-	-	-	-	United States	white (German Ancestry)	-	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00149291	-	-	No dementia	-	-	Canada	white (United Kingdom (Great Britain) Ancestry)	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149292	-	-	-	-	-	United States	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149293	-	-	-	-	-	United States	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149294	-	-	-	-	-	Austria	white	68y10m	-	-	-	IBMPFD1	-	VCP	VCP	1	4	Marc Cruts
00149295	-	-	Dementia at 50 years	-	-	Germany	white	49y	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149296	-	-	-	-	-	Poland	white	52y	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00149297	-	-	-	-	-	United States	white	52y	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149298	-	-	-	-	-	-	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149299	-	-	-	-	-	-	white	63y10m	-	-	-	IBMPFD1	-	VCP	VCP	1	9	Marc Cruts
00149301	-	-	-	-	-	Belgium	white	57y	-	-	-	IBMPFD1	-	VCP	VCP	1	4	Marc Cruts
00149302	-	-	Progressive cognitive impairment since late 60s	-	-	-	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149303	-	-	-	-	-	Italy	white	58y06m	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149304	-	-	-	-	-	Italy	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149324	-	-	Basque Country	-	-	Spain	white	-	-	-	-	?, IBMPFD1	-	GRN	GRN	1	4	Marc Cruts
00149359	-	-	-	-	-	Italy	white	56y	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149419	-	-	-	-	-	-	-	75y	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149420	-	-	-	-	-	-	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	4	Marc Cruts
00149421	-	-	-	-	-	-	-	-	-	-	-	IBMPFD1	-	VCP	VCP	1	8	Marc Cruts
00149449	-	-	-	-	-	Germany	white	67y	-	-	-	?, IBMPFD1	-	VCP	VCP	1	4	Marc Cruts
00149622	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149623	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149624	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149625	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00149626	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149627	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00149628	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149629	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149630	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00149631	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	VCP	VCP	1	2	Marc Cruts
00149667	-	-	-	-	-	Australia	Anglo-Saxon	-	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00150092	-	-	-	-	-	Korea	Asian	-	-	-	-	IBMPFD1	-	VCP	VCP	1	3	Marc Cruts
00150094	-	-	-	-	-	-	Asian	-	-	-	-	IBMPFD1	-	VCP	VCP	1	1	Marc Cruts
00376137	180400	-	-	M	no	Germany	-	-	-	-	-	IBMPFD1	Muscle weakness, Achilles tendon contracture, Scapuloperoneal weakness, Abnormality of the Achilles tendon, Contractures involving the joints of the feet, Family history, Past medical history	VCP	VCP	1	1	Andreas Laner

Legend

How to query

Global Variome shared LOVD

H2AFV (H2A histone family, member V)