Disease #05105 (IBM (myopathy, inclusion body (IBM)))

Official abbreviation	IBM
Name	myopathy, inclusion body (IBM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	55
Phenotype entries for this disease	54
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-12-08 01:36:43 +01:00 (CET)
Date last edited	N/A

Individuals

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

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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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55 entries on 1 page. Showing entries 1 - 55.

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
00056174	-	-	-	-	-	Italy	-	-	-	-	-	IBM	-	GNE	GNE	1	1	Johan den Dunnen
00056224	-	-	-	-	-	Pakistan	-	-	-	-	-	IBM	-	GNE	GNE	2	1	Tom Winder
00056225	-	-	-	M	-	United Kingdom (Great Britain)	Scottish	-	-	-	-	IBM	-	GNE	GNE	2	1	Tom Winder
00056226	-	-	-	M	-	India	-	-	-	-	-	IBM	slowly progressive distal weakness; EMG myopathic; CPK mildly elevated	GNE	GNE	2	1	Tom Winder
00056234	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); walk	GNE	GNE	2	1	Johan den Dunnen
00056235	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 38y	GNE	GNE	2	1	Johan den Dunnen
00056236	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 48y	GNE	GNE	2	1	Johan den Dunnen
00056237	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); 35y-walk crutches, lost ability walk >35y	GNE	GNE	2	1	Johan den Dunnen
00056238	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 37y	GNE	GNE	2	1	Johan den Dunnen
00056239	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y	GNE	GNE	2	1	Johan den Dunnen
00056240	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 33y	GNE	GNE	2	1	Johan den Dunnen
00056241	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 45y	GNE	GNE	2	1	Johan den Dunnen
00056242	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); 34y-walk cane, lost ability walk >34y	GNE	GNE	2	1	Johan den Dunnen
00056243	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y	GNE	GNE	2	1	Johan den Dunnen
00056244	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 35y	GNE	GNE	2	1	Johan den Dunnen
00056245	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 36y	GNE	GNE	2	1	Johan den Dunnen
00056246	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y	GNE	GNE	2	1	Johan den Dunnen
00056247	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 39y	GNE	GNE	2	1	Johan den Dunnen
00056248	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 46y	GNE	GNE	2	1	Johan den Dunnen
00056249	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 50y	GNE	GNE	2	1	Johan den Dunnen
00056250	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 40y	GNE	GNE	2	1	Johan den Dunnen
00056251	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); walk	GNE	GNE	2	1	Johan den Dunnen
00056252	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 30y	GNE	GNE	2	1	Johan den Dunnen
00056253	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 60y	GNE	GNE	2	1	Johan den Dunnen
00056254	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 35y	GNE	GNE	2	1	Johan den Dunnen
00056255	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); lost ability walk 48y	GNE	GNE	2	1	Johan den Dunnen
00056256	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); 53y-walk cane, lost ability walk >53y	GNE	GNE	2	1	Johan den Dunnen
00056257	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); 49y-walk cane, lost ability walk >49y	GNE	GNE	2	1	Johan den Dunnen
00056258	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); walk difficulty	GNE	GNE	2	1	Johan den Dunnen
00056259	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); walk difficulty	GNE	GNE	2	1	Johan den Dunnen
00056260	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); walk difficulty	GNE	GNE	2	1	Johan den Dunnen
00056261	-	-	-	-	?	(United States)	Iran;Jewish	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); 70y-walk cane, lost ability walk >70y	GNE	GNE	2	1	Johan den Dunnen
00056262	-	-	-	-	?	United States	-	-	-	-	-	IBM	myopathy, inclusion body, hereditary (HIBM); walk	GNE	GNE	2	1	Johan den Dunnen
00056271	-	PubMed: Behnam 2014	2-generation family, 1 affected, unaffected heterozygous carrier daugthers	F	no	Iran	non-Jewish	>48y	-	-	-	IBM	history immune thrombocytopenic purpura (HP:0001973, like elder brother), hypothyroidism (HP:0000821); bilateral foot drop (HP:0009027), positive Gower's sign (HP:0003391), significant weakness lower extremities (HP:0007340), muscle testing 5/5 strength quadriceps, 3/5 other proximal/distal muscles lower extremities, 4/5 upper extremities proximal muscles, 5/5 flexor pollicise lunges, 2/5 flexor digit rum profoundus, intact sensation and cranial nerve; EMG left biceps/deltoid muscles normal motor unit interference pattern, low amplitude, short duration motor unit action potential without abnormal spontaneous activity. Left tibialis anterior revealed a few polyphasic motor unit action potentials, nerve conduction in normal limits; CPK increased 347 IU/L (32-267) (HP:0003236); biopsy muscle rimmed vacuolar myopathy (HP:0003805), no inflammatory infiltrate	GNE	GNE	1	1	Johan den Dunnen
00105225	-	-	-	-	-	-	-	-	-	-	-	IBM	inclusion body myopathy, Paget disease (HP:0030441)	VCP	VCP	1	1	Gisela Nogales
00146440	?	-	-	M	-	United States	-	-	-	-	-	IBM	-	VCP	VCP	1	1	Tom Winder
00146441	?	-	-	M	-	United States	-	-	-	-	-	IBM	-	VCP	VCP	1	1	Tom Winder
00146442	?	-	-	F	-	United States	-	-	-	-	-	IBM	distal>proximal weakness; non-inflammatory IBM; myopathic EMG; CPK normal	VCP	VCP	1	1	Tom Winder
00205405	-	PubMed: Gotlieb 2005	-	-	-	(United States)	Iran;Jewish	-	-	-	-	IBM	walks	DAG1	DAG1	1	1	Johan den Dunnen
00205406	-	PubMed: Gotlieb 2005	-	-	-	(United States)	Iran;Jewish	-	-	-	-	IBM	48y-lost ability to walk (HP:0006957)	DAG1	DAG1	2	1	Johan den Dunnen
00205418	-	PubMed: Gotlieb 2005	-	-	-	(United States)	Iran;Jewish	-	-	-	-	IBM	walks	DAG1	DAG1	2	1	Johan den Dunnen
00205419	-	PubMed: Gotlieb 2005	-	-	-	(United States)	Iran;Jewish	-	-	-	-	IBM	35y-lost ability to walk (HP:0006957)	DAG1	DAG1	2	1	Johan den Dunnen
00205420	-	PubMed: Gotlieb 2005	-	-	-	(United States)	Iran;Jewish	-	-	-	-	IBM	40y-lost ability to walk (HP:0006957)	DAG1	DAG1	2	1	Johan den Dunnen
00210057	AFF	PubMed: Vadgama 2019, Journal: Vadgama 2019	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	IBM	-	-	-	3	2	Nirmal Vadgama
00246717	-	PubMed: Brown 2012	-	-	-	United States	-	-	-	-	-	ALS, IBM	-	FUS	FUS	1	1	Serena Lattante
00286277	-	PubMed: Weihl 2015	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00286289	-	PubMed: Weihl 2015	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00286291	-	PubMed: Weihl 2015	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00286301	-	PubMed: Weihl 2015	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00286327	-	PubMed: Weihl 2015	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00286386	-	PubMed: Cerino 2017	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00286412	-	PubMed: Weihl 2015	-	-	-	-	-	-	-	-	-	IBM	-	FLNC	FLNC	1	1	Els Vanhoutte
00305877	165438	-	-	M	?	Germany	-	-	-	-	-	IBM	16 year old patient with hyperChemia 933 U/l, scoliosis (mild), indirect hyperbilirubinemia (2.2 mg/dl); HPO: Scoliosis , Elevated serum creatine kinase , Unconjugated hyperbilirubinemia	MYH2	MYH2	2	1	Andreas Laner
00402417	P28/Myo090	PubMed: Cerino 2022 PubMed: Schiava 2022	-	M	no	Chile	hispanic	-	-	-	-	IBM	-	-	VCP	1	1	JA Bevilacqua
00416525	-	-	-	M	no	Chile	hispanic	-	-	-	-	IBM	-	-	VCP	1	1	JA Bevilacqua

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Global Variome shared LOVD

NAA16 (N(alpha)-acetyltransferase 16, NatA auxiliar...)