All individuals with variants in gene VCP

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.

111 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	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	1	1	Marcel Nelen
00078544	25457024-FamPat1	PubMed: Hirano 2015, Journal: Hirano 2015	older brother with dementia	M	-	Japan	Japanese	>72y	-	-	-	ALS	muscle weakness extended to all 4 limbs (HP:0003690), bulbar signs (HP:0002483), severe amyotrophy of all 4 limbs (HP:0003202), diminished deep tendon reflexes (HP:0001265), extensor plantar reflexes (HP:0003487), tongue atrophic (HP:0012473), complete tetraparesis (HP:0002273), hearing difficulty (HP:?), mental impairment ( HP:0100543), complete limb palsy (HP:?), atrophy of the frontal and temporal lobes (HP:0006892), dementia (HP:0000726)	1	1	Jamie Zeegers
00105225	-	-	-	-	-	-	-	-	-	-	-	IBM	inclusion body myopathy, Paget disease (HP:0030441)	1	1	Gisela Nogales
00146423	15034582-Fam1	PubMed: Watts 2004, OMIM:var0001	6-generation family, 29 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	29	Johan den Dunnen
00146424	15034582-Fam3	PubMed: Watts 2004, OMIM:var0001	4-generation family, 8 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	8	Johan den Dunnen
00146425	15034582-Fam7	PubMed: Watts 2004, OMIM:var0001	3-generation family, 10 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	10	Johan den Dunnen
00146426	15034582-Fam16	PubMed: Watts 2004, OMIM:var0001	4-generation family, 6 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	6	Johan den Dunnen
00146427	15034582-Fam2	PubMed: Watts 2004, OMIM:var0002	6-generation family, 20 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	20	Johan den Dunnen
00146428	15034582-Fam5	PubMed: Watts 2004, OMIM:var0002	4-generation family, 11 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	11	Johan den Dunnen
00146429	15034582-Fam4	PubMed: Watts 2004, OMIM:var0001	4-generation family, 12 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	12	Johan den Dunnen
00146430	15034582-Fam6	PubMed: Watts 2004, OMIM:var0003	3-generation family, 3 affecteds	-	-	United States	Europe	-	-	-	-	IBMPFD1	-	1	3	Johan den Dunnen
00146431	15034582-Fam9	PubMed: Watts 2004, OMIM:var0004	5-generation family, 6 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	1	6	Johan den Dunnen
00146432	15034582-Fam10	PubMed: Watts 2004, OMIM:var0001	5-generation family, 6 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	1	6	Johan den Dunnen
00146433	15034582-Fam11	PubMed: Tucker 1982	5-generation family, 9 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	1	9	Johan den Dunnen
00146434	15034582-Fam13	PubMed: Watts 2004, OMIM:var0006	4-generation family, 4 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	1	4	Johan den Dunnen
00146435	15034582-Fam15	PubMed: Watts 2004, OMIM:var0001	4-generation family, 8 affecteds	-	-	United States	-	-	-	-	-	IBMPFD1	-	1	8	Johan den Dunnen
00146436	18341608-Fam1	PubMed: Viassolo 2008	5-generation family, 8 affecteds	-	-	Italy	-	-	-	-	-	IBMPFD1	-	1	8	Johan den Dunnen
00146437	16247064-FamA	PubMed: Haubenberger 2005	2-generation family, 5 affecteds	-	-	Austria	-	-	-	-	-	IBMPFD1	no frontotemporal dementia(>60y)	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	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	1	4	Johan den Dunnen
00146440	?	-	-	M	-	United States	-	-	-	-	-	IBM	-	1	1	Tom Winder
00146441	?	-	-	M	-	United States	-	-	-	-	-	IBM	-	1	1	Tom Winder
00146442	?	-	-	F	-	United States	-	-	-	-	-	IBM	distal>proximal weakness; non-inflammatory IBM; myopathic EMG; CPK normal	1	1	Tom Winder
00146443	?	-	-	M	-	Australia	white	-	-	-	-	?	distal upper limb weakness and muscle wasting, late-adult onset (>70y), upper limbs alone, no FTD or Paget disease of bone; CPK normal	1	1	Robert Boland-Freitas
00146444	?	-	-	-	no	Japan	Japanese	-	-	-	-	IBMPFD1	able to walk, CPK 714 IU/l	1	1	Shiro Matsubara
00149281	-	-	-	-	-	United States	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149282	-	-	-	-	-	United States	white (Northern European Ancestry)	69y	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00149283	-	-	-	-	-	United States	white (Northern European Ancestry)	63y	-	-	-	IBMPFD1	-	1	7	Marc Cruts
00149284	-	-	No dementia	-	-	United States	white (Northern European Ancestry)	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149285	-	-	-	-	-	United States	white (Northern European Ancestry)	-	-	-	-	IBMPFD1	-	1	4	Marc Cruts
00149286	-	-	-	-	-	United States	white	64y04m	-	-	-	IBMPFD1	-	1	5	Marc Cruts
00149287	-	-	No dementia	-	-	United States	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149288	-	-	-	-	-	United States	white (Scottish Ancestry)	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149289	-	-	-	-	-	United States	white (Northern European Ancestry)	60y04m	-	-	-	IBMPFD1	-	1	4	Marc Cruts
00149290	-	-	-	-	-	United States	white (German Ancestry)	-	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00149291	-	-	No dementia	-	-	Canada	white (United Kingdom (Great Britain) Ancestry)	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149292	-	-	-	-	-	United States	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149293	-	-	-	-	-	United States	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149294	-	-	-	-	-	Austria	white	68y10m	-	-	-	IBMPFD1	-	1	4	Marc Cruts
00149295	-	-	Dementia at 50 years	-	-	Germany	white	49y	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149296	-	-	-	-	-	Poland	white	52y	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00149297	-	-	-	-	-	United States	white	52y	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149298	-	-	-	-	-	-	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149299	-	-	-	-	-	-	white	63y10m	-	-	-	IBMPFD1	-	1	9	Marc Cruts
00149300	-	-	-	-	-	Belgium	white	77y09m	-	-	-	FTD	-	1	6	Marc Cruts
00149301	-	-	-	-	-	Belgium	white	57y	-	-	-	IBMPFD1	-	1	4	Marc Cruts
00149302	-	-	Progressive cognitive impairment since late 60s	-	-	-	-	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149303	-	-	-	-	-	Italy	white	58y06m	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149304	-	-	-	-	-	Italy	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149305	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	1	Marc Cruts
00149306	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	1	Marc Cruts
00149307	-	-	-	-	-	-	-	-	-	-	-	AD	-	1	1	Marc Cruts
00149359	-	-	-	-	-	Italy	white	56y	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149419	-	-	-	-	-	-	-	75y	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149420	-	-	-	-	-	-	-	-	-	-	-	IBMPFD1	-	1	4	Marc Cruts
00149421	-	-	-	-	-	-	-	-	-	-	-	IBMPFD1	-	1	8	Marc Cruts
00149422	-	-	-	-	-	-	-	-	-	-	-	FTD	-	1	1	Marc Cruts
00149449	-	-	-	-	-	Germany	white	67y	-	-	-	?, IBMPFD1	-	1	4	Marc Cruts
00149620	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Marc Cruts
00149622	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149623	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149624	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149625	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00149626	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149627	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00149628	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149629	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149630	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00149631	-	-	-	-	-	France; Spain	white	-	-	-	-	IBMPFD1	-	1	2	Marc Cruts
00149667	-	-	-	-	-	Australia	Anglo-Saxon	-	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00150092	-	-	-	-	-	Korea	Asian	-	-	-	-	IBMPFD1	-	1	3	Marc Cruts
00150093	-	-	-	-	-	-	Asian	-	-	-	-	MPD	-	1	1	Marc Cruts
00150094	-	-	-	-	-	-	Asian	-	-	-	-	IBMPFD1	-	1	1	Marc Cruts
00150095	-	-	-	-	-	-	Asian	-	-	-	-	?	-	1	1	Marc Cruts
00150096	-	-	-	-	-	-	Asian	-	-	-	-	LGMD	-	1	1	Marc Cruts
00150097	-	-	-	-	-	-	Asian	-	-	-	-	MPD	-	1	1	Marc Cruts
00150098	-	-	-	-	-	-	Asian	-	-	-	-	?	-	1	2	Marc Cruts
00222490	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222541	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222714	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00222720	30564623-Pat	PubMed: Nallamilli 2018	-	-	-	(United States)	-	-	-	-	-	LGMD	-	1	1	Madhuri Hegde
00274299	Fam1250	PubMed: Reddy 2017	2-generation family, 2 affected brothers	M	-	United States	Germany	-	-	-	-	LGMD	elevated CK level (400’s); muscle histology dystrophic; ambulatory	1	2	Johan den Dunnen
00274432	Pat209	PubMed: Park 2017	-	F	-	Korea	-	-	-	-	-	MD	proximal muscle weakness; muscle myopathic pattern with rimmed vacuoles; CK 80 IU/L; no family history	1	1	Johan den Dunnen
00289136	P5	PubMed: Evilä 2016	-	-	-	Germany	-	-	-	-	-	MYOP	distal myopathy	1	1	Johan den Dunnen
00295546	-	-	-	F	-	-	-	-	-	-	-	?	Abnormality of muscle morphology (HP:0011805); Myopathy (HP:0003198)	1	1	Andreas Laner
00301388	-	-	-	M	-	Germany	-	-	-	-	-	?	Pes cavus (HP:0001761); Hammertoe (HP:0001765); Peripheral axonal neuropathy (HP:0003477)	1	1	Andreas Laner
00314518	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	2	Johan den Dunnen
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	1	1	Andreas Laner
00399022	P55	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	raised serum CK 2 fold; muscle biopsy isolated fibers with rimmed vacuoles	1	1	Johan den Dunnen
00399081	P161	PubMed: Gonzalez-Quereda 2020	patient	M	-	Spain	-	-	-	-	-	NMD	serum CK 146 U/L; muscle biopsy rimmed vacuoles; limb-girdle muscle weakness	1	1	Johan den Dunnen
00402417	P28/Myo090	PubMed: Cerino 2022 PubMed: Schiava 2022	-	M	no	Chile	hispanic	-	-	-	-	IBM	-	1	1	JA Bevilacqua
00408683	Pat19	PubMed: Thomas 2022	no family history	-	no	France	-	-	-	-	-	NMD	-	1	1	Johan den Dunnen
00413133	P76/Myo152	PubMed: Cerino 2022	analysis 82 myopathy patients	-	-	Chile	-	-	-	-	-	MYOP	-	1	1	Johan den Dunnen
00416525	-	-	-	M	no	Chile	hispanic	-	-	-	-	IBM	-	1	1	JA Bevilacqua
00440568	Pat1	PubMed: Mah-Som 2023	-	M	-	-	Europe-N	-	-	-	-	NDD	gross motor delay, 1y-walk (earlier milestones mildly late); fine motor delay, 6m-unsteady/slow reach, now age-appropriate; no language delay, first words 7m; no intellectual disability; brief head-banging behavior, resolved; truncal +/- lower extremity hypotonia, full-body tremor (resolved); EEG normal; MRI brain 7m-normal; mildly low-set ears, anteverted nares, prominent forehead and chin, positional plagiocephaly; torticollis, inguinal hernia requiring repair, mild hypospadias w/chordee; 2m-pyloric stenosis s/p pylorotomy, mild thoracolumbar kyphosis	1	1	Johan den Dunnen
00440569	Pat2	PubMed: Mah-Som 2023	-	M	-	-	Europe-N	-	-	-	-	NDD	gross motor delay, 3y-walk; fine motor delay, 3y-Pincer grasp, 4y-utensil, complicated by hypotonia; language delay, first words 9m, sentences 5y; mild intellectual disability 5y-IQ87; autism, attention-deficit/hyperactivity disorder, social anxiety, hand-flapping, poor sleep; hypotonia (generalized symmetric limbs), hyporeflexia; EEG normal; MRI brain minimal bilateral frontal, parietal, aperiventricular FLAIR changes (1y and 4y); broad forehead with frontal bossing, long face, posteriorly rotated ears (L mildly low-set), deep- set eyes, high-arched palate, thin upper lip; bilateral hydrocele; leg pronation/abnormal hip alignment requiring orthotics, asthma, constipation, joint hypermobility	1	1	Johan den Dunnen
00440570	Pat3	PubMed: Mah-Som 2023	-	F	-	-	Europe-N	-	-	-	-	NDD	gross motor delay, 2y-walk; fine motor delay, difficulty with handwriting, shoelaces, buttons, zippers and cutting food; non-verbal, 3-word vocabulary; mild intellectual disability 8y-IQ48; some features of autism, hand-flapping behavior; hypotonia in infancy; MRI brain 3m-w/thin corpus callosum, slightly small pons, slight prominence of extra-axial CSF spaces and ventricles; broad forehead, deep-set eyes, bitemporal narrowing, space between upper incisors, thin upper lip; inward-turning feet requiring splinting; gastroesophageal reflux disease, constipation, small kidneys w/hydronephrosis, short stature (4y-2nd percentile)	1	1	Johan den Dunnen
00440571	Pat4	PubMed: Mah-Som 2023	-	M	-	-	Arab	-	-	-	-	NDD	gross motor delay, requires orthoses to walk due to hypotonia, uses wheelchair; fine motor delay; language delay, first words 9y, few words; 12y-severe intellectual disability (developmentally 2y); happy demeanor, hand-flapping behavior; hypotonia (legs), EEG with epileptic activity, no clinical seizures; MRI brain 7y-slightly asymmetric hemispheric sizes, reduced white matter, possible mild polymicrogyria at insulae bilaterally; down-slanting palpebral fissures, convex nasal ridge, overhanging nasal tip, uplifted earlobes, thin upper lip, protuberant lower jaw, high palate, long toes; punctate corneal clouding, thin diaphysis/underdeveloped epiphyses of long bones, calcaneovagus deformity, umbilical hernia s/p repair; scoliosis	1	1	Johan den Dunnen
00440572	Pat5	PubMed: Mah-Som 2023	-	M	-	-	Europe-N	-	-	-	-	NDD	gross motor delay, 2.3y-walk; fine motor delay, difficulty writing and cutting food, reduced coordination; language delay, first words 18m, sentences 3y, dysarthria; no intellectual disability, school acquisitions slow; attention-deficit/hyperactivity disorder, anxiety, depression; hypotonia, seizures (on 4 AEDs); MRI brain congenital hydrocephalus with quadriventricular dilatation and cerebral atrophy; frontal bossing; congenital hydrocephalus; astigmatism, hyperopia, gastroesophageal reflux disease	1	1	Johan den Dunnen
00440573	Pat6	PubMed: Mah-Som 2023	-	F	-	-	Europe-N;Thailand	-	-	-	-	NDD	gross motor delay, 2.6y-walk; no fine motor delay; language delay, first words 2y, no sentences 4y; mild-moderate intellectual disability; normal behaviour; hypotonia; MRI brain 3.3y-enlarged perivascular spaces; dolichocephaly, mild frontal bossing, deep nasal root; no congenital anomaly; mild myopia	1	1	Johan den Dunnen

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Global Variome shared LOVD

VCP (valosin containing protein)