Disease #05741 (OPDM (myopathy, oculopharyngodistal (OPDM)))

Official abbreviation	OPDM
Name	myopathy, oculopharyngodistal (OPDM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	60
Phenotype entries for this disease	43
Associated with 4 genes	GIPC1, LRP12, NOTCH2NLC, RILPL1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-05-14 18:50:02 +02:00 (CEST)
Date last edited	N/A

Individuals

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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
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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
<=	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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60 entries on 1 page. Showing entries 1 - 60.

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
00301348	Fam1Pat12	PubMed: Deng 2020, Journal: Deng 2020	6-generation family, 8 affected (3F, 5M)	F	-	China	-	-	-	-	-	OPDM	see paper; ..., disease duration 24y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 849 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	8	Johan den Dunnen
00301349	Fam7Pat1	PubMed: Deng 2020, Journal: Deng 2020	3-generation family, 3 affected (2F, M)	F	-	China	-	-	-	-	-	OPDM	disease duration 5y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 277 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301350	Fam8Pat1	PubMed: Deng 2020, Journal: Deng 2020	2-generation family, 3 affected (2F, M)	F	-	China	-	-	-	-	-	OPDM	disease duration 7y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 358 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301351	PatS1	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	China	-	-	-	-	-	OPDM	disease duration 19y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 174 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301352	PatS2	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	disease duration 8y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 1,09 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301353	PatS3	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	China	-	-	-	-	-	OPDM	disease duration 9y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 581 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301354	PatS4	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	China	-	-	-	-	-	OPDM	see paper; ..., disease duration 7y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 790 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301355	PatS5	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	see paper; ..., disease duration 8y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 2,524 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301356	PatS6	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	China	-	-	-	-	-	OPDM	disease duration 11y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change, neurogenic change; elevated serum Creatine Kinase (HP:0003236) 154 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301357	PatS7	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	disease duration 1y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); elevated serum Creatine Kinase (HP:0003236) >1,000 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301358	PatS8	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	disease duration 3y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 455 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301359	PatS9	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	disease duration 12y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); elevated serum Creatine Kinase (HP:0003236) 345 IU/L; rimmed vacuoles (HP:0003805)	GIPC1	GIPC1	1	1	Johan den Dunnen
00301361	FamJ1PatII3	PubMed: Deng 2020, Journal: Deng 2020	3-generation family, 3 affected (F, 2M)	M	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	3	Johan den Dunnen
00301362	FamJ1PatII4	PubMed: Deng 2020, Journal: Deng 2020	3-generation family, 5 affected (3F, 2M)	M	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301363	FamJ1PatIII3	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301364	FamJ2PatII5	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	5	Johan den Dunnen
00301365	FamJ2PatII7	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301366	FamJ3	PubMed: Deng 2020, Journal: Deng 2020	3-generation family, 1 affected	M	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301367	FamJ4	PubMed: Deng 2020, Journal: Deng 2020	2-generation family, 1 affected	F	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301368	FamJ5	PubMed: Deng 2020, Journal: Deng 2020	2-generation family, 5 affected (3F, 2M)	-	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	5	Johan den Dunnen
00301369	FamJ6	PubMed: Deng 2020, Journal: Deng 2020	2-generation family, 2 affected (F, M)	-	-	Japan	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	2	Johan den Dunnen
00301370	FamJ7	PubMed: Deng 2020, Journal: Deng 2020	3-generation family, 1 affected	M	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301372	Fam1Pat8	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301373	Fam1Pat9	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301374	Fam1Pat10	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301375	Fam1Pat11	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301376	Fam1Pat13	PubMed: Deng 2020, Journal: Deng 2020	-	M	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301377	Fam1Pat14	PubMed: Deng 2020, Journal: Deng 2020	-	F	-	China	-	-	-	-	-	OPDM	-	GIPC1	GIPC1	1	1	Johan den Dunnen
00301526	FamF7967PatIII1	PubMed: Ishiura 2019	3-generation family, 4 affected (F, 3M)	M	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles	LRP12	LRP12	1	1	Johan den Dunnen
00301549	Fam2	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301550	Fam3	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301551	Fam4	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301552	Fam5	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301553	Spo1	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301554	Spo2	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301555	Spo3	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301556	Spo4	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301557	Spo5	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301558	Spo6	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301559	Spo7	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301560	Spo8	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	see paper; ..., characteristic distributions of muscle involvement, ptosis, external ophthalmoplegia, weaknes masseter, facial, pharyngeal and distal limb muscles, rimmed vacuoles	LRP12	LRP12	1	1	Johan den Dunnen
00301561	Fam6	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301562	Fam7	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301563	Fam8	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301564	Fam9	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301565	Spo9	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301566	Spo10	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301567	Spo11	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301568	Spo12	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00301569	Spo13	PubMed: Ishiura 2019	-	-	-	Japan	-	-	-	-	-	OPDM	ptosis, extraocular and pharyngeal weakness	LRP12	LRP12	1	1	Johan den Dunnen
00402876	Fam1PatIII1	PubMed: Yu 2022	3-generation family, 3 affected (2F, M)	F	-	China	-	-	-	-	-	OPDM	see paper; ..., bilateral ptosis, limitation eye movement, 26y-diplopia, gradually developed facial muscle weakness, anasal voice, difficulty speaking and swallowing, symmetrical weakness four distal limbs	RILPL1	RILPL1	1	3	Johan den Dunnen
00402878	FamPatII2	PubMed: Yu 2022	uncle	M	-	China	-	-	-	-	-	OPDM	see paper; ..., 27y-ptosis; 42y-poor eye movement, nasal voice, muscle weakness facial muscles and distal limbs, no sensory impairment, EMG myogenic changes	RILPL1	RILPL1	1	1	Johan den Dunnen
00402880	PatS1	PubMed: Yu 2022	-	M	-	China	-	-	-	-	-	OPDM	see paper; ..., 14y-drooping eyelids, gradually developed limited eye movement; 31y-weakness finger extension; >36y-developed dysarthria, weakness distal lower limbs; 46y-high-arched palate, external ophthalmoplegia, facial weakness, wasting both lower limbs and distal upper limbs, absent deep tendon reflexes , no sensory deficit	RILPL1	RILPL1	1	1	Johan den Dunnen
00402881	patients	PubMed: Yu 2022	analysis 20 OPDM-affected individuals with unknown genetic cause	-	-	China	-	-	-	-	-	OPDM	-	RILPL1	RILPL1	1	9	Johan den Dunnen
00426072	Fam1PatIII7	PubMed: Zeng 2022	5-generation family, 6 affected (4F, 2M)	F	-	China	-	-	-	-	-	OPDM	ptosis; restricted eye movement, external ophthalmoplegia; dysphagia; dysarthria (nasal voice); facial palsy or atrophy; proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; no DWI hyperintensity signal; raised creatine kinase level 758 U/L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions	RILPL1	RILPL1	1	6	Johan den Dunnen
00426073	Fam1PatIV3	PubMed: Zeng 2022	relative	F	-	China	-	-	-	-	-	OPDM	ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 295 U/L	RILPL1	RILPL1	1	1	Johan den Dunnen
00426074	Fam1PatIV4	PubMed: Zeng 2022	relative	M	-	China	-	-	-	-	-	OPDM	ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; 434raised creatine kinase level U/L	RILPL1	RILPL1	1	1	Johan den Dunnen
00426075	Fam1PatIV5	PubMed: Zeng 2022	relative	F	-	China	-	-	-	-	-	OPDM	ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; high normal creatine kinase level 165 U/L	RILPL1	RILPL1	1	1	Johan den Dunnen
00426076	Fam2PatIII3	PubMed: Zeng 2022	4-generation family, 2 affected brothers	M	-	China	-	-	-	-	-	OPDM	ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 710 U?L; EMG myopathic changes	RILPL1	RILPL1	1	2	Johan den Dunnen
00426077	Fam2PatIII4	PubMed: Zeng 2022	brother	M	-	China	-	-	-	-	-	OPDM	ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 665 U?L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions	RILPL1	RILPL1	1	1	Johan den Dunnen

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Global Variome shared LOVD

GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acety...)