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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00000208 |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
CHTE |
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) |
5 |
1 |
Yu Sun |
00000209 |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
CHTE |
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) |
5 |
1 |
Yu Sun |
00137093 |
patient2 |
- |
unaffected parents |
M |
no |
United States |
black, Indian |
81y |
- |
- |
- |
? |
adult onset, progressive upper and lower limb proximal weakness, scapular winging, arrhythmia, artificial ventilation, CK elevation >10x; muscle biopsy shows myopathic and dystrophic features |
1 |
1 |
Eugen-Matthias Strehle |
00143185 |
patient1 |
- |
2-generation family, parents and sister not affected |
F |
- |
United States |
- |
- |
- |
- |
- |
? |
muscle weakness and wasting in legs, later in arms, severe scapular winging, hyperlordosis, ankle contractures, waddling gait, CK 650 U/L; EMG myopathic pattern; muscle biopsy shows myopathic features and lobulated fibres: no heart and lung involvement |
1 |
1 |
Eugen-Matthias Strehle |
00205451 |
- |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
1 |
2 |
Johan den Dunnen |
00205452 |
- |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MRX;IDX |
- |
1 |
1 |
Johan den Dunnen |
00205453 |
- |
PubMed: Gueneau 2009 |
6-generation family, 9 affecteds |
M |
- |
- |
Europe |
>41y |
- |
- |
- |
EDMD |
muscle weakness/wasting UL (scapulo-humeral) / LL (pelvic, distal); rigid spine, stiff neck, contractures elbow/ankle/knees/hips, scoliosis; elevated serum creatine phosphokinase (HP:0003236) 6x |
1 |
9 |
Johan den Dunnen |
00205454 |
- |
PubMed: Gueneau 2009 |
4-generation family, 1 affected |
M |
- |
- |
Europe |
>30y |
- |
- |
- |
EDMD |
muscle weakness/wasting UL (scapular) / LL (pelvic); rigid spine, stiff neck, contractures elbow/ankle/knees, muscle hypertrophy, dysphonia due to vocal cord palsy, swallowing difficulties; elevated serum creatine phosphokinase (HP:0003236) 2.3-3.7x |
1 |
1 |
Johan den Dunnen |
00205455 |
- |
PubMed: Gueneau 2009 |
3-generation family, 2 affecteds |
M |
- |
- |
Europe |
>35y |
- |
- |
- |
EDMD |
muscle weakness/wasting UL (scapular, scapula alata) / LL (pelvic, peroneal); rigid spine, stiff neck, contractures elbow/ankle, scoliosis (arthrodesisat 19y); elevated serum creatine phosphokinase (HP:0003236) 4.5x |
1 |
2 |
Johan den Dunnen |
00205456 |
- |
PubMed: Gueneau 2009 |
4-generation family, 3 affecteds |
M |
- |
Japan |
- |
>23y |
- |
- |
- |
EDMD |
muscle weakness/wasting UL (scapular, humeral) / LL (pelvic, peroneal), rigid spine, stiff neck; contractures ankle/hips, ptosis; ; elevated serum creatine phosphokinase (HP:0003236) 2x |
1 |
3 |
Johan den Dunnen |
00205457 |
- |
PubMed: Gueneau 2009 |
4-generation consanguineous family, 5 affecteds |
M |
- |
Saudi Arabia |
- |
>18y |
- |
- |
- |
EDMD |
muscle weakness/wasting UL (scapular) / LL (peroneal); rigid spine, stiff neck, contractures elbow/ankle/wrists/knees, scoliosis, dysphonia due to vocal cord palsy; no elevated serum creatine phosphokinase (-HP:0003236) |
1 |
5 |
Johan den Dunnen |
00205458 |
- |
PubMed: Gueneau 2009 |
- |
M |
- |
- |
Europe |
>26y |
- |
- |
- |
EDMD |
muscle weakness/wasting UL (humeral) / LL (peroneal); contractures elbow/ankle, dysphonia due to vocal cord palsy; elevated serum creatine phosphokinase (HP:0003236) 2.3x |
1 |
1 |
Johan den Dunnen |
00205459 |
- |
PubMed: Gueneau 2009 |
4-generation family, 1 affected |
M |
- |
- |
Europe |
>54y |
- |
- |
- |
EDMD |
muscle weakness/wasting LL (pelvic); stiff neck, contractures ankle/shoulders, muscle hypertrophy (paravertebral and shoulders); elevated serum creatine phosphokinase (HP:0003236) 2.5x |
1 |
1 |
Johan den Dunnen |
00205460 |
- |
PubMed: Wilhelmesen 1996, FamC |
4-generation family, 16 affecteds (8 male, 8 female) |
M |
- |
United States |
Italy |
- |
- |
- |
- |
SPM |
7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y |
1 |
8 |
Johan den Dunnen |
00205461 |
- |
PubMed: Wilhelmesen 1996, FamC |
4-generation family, 16 affecteds (8 male, 8 female) |
F |
- |
United States |
Italy |
- |
- |
- |
- |
SPM |
4/8 wheelchair bound 54.8y (±19y), 4 walking (33-74y) |
1 |
8 |
Johan den Dunnen |
00205462 |
- |
PubMed: Windpassinger 2008 |
7-generation family, 12 affecteds |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
- |
1 |
4 |
Johan den Dunnen |
00205463 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; early athletic habitus; elevated serum creatine phosphokinase (HP:0003236) 620 |
1 |
1 |
Johan den Dunnen |
00205464 |
- |
PubMed: Schwarzmeier 1971, PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; early athletic habitus; musle biopsy myopathic; cardiomyopathy with arrhythmia; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 500-900 |
1 |
1 |
Johan den Dunnen |
00205465 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 800-1200 |
1 |
1 |
Johan den Dunnen |
00205466 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; early athletic habitus; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 780 |
1 |
1 |
Johan den Dunnen |
00205467 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 700 |
1 |
1 |
Johan den Dunnen |
00205468 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; musle biopsy myopathic; ; hypertrophic cardiomyopathy; ; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 550 |
1 |
1 |
Johan den Dunnen |
00205469 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; normal heart; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 400-1774 |
1 |
1 |
Johan den Dunnen |
00205470 |
- |
PubMed: Windpassinger 2008 |
male family 18179888 |
M |
- |
Australia |
- |
- |
- |
- |
- |
XMPMA;EDMD6 |
MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 620 |
1 |
1 |
Johan den Dunnen |
00205471 |
- |
PubMed: Windpassinger 2008 |
5-generation family, 4 affecteds |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
MD |
EMG normal; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 1300 |
1 |
4 |
Johan den Dunnen |
00205472 |
- |
PubMed: Schessl 2008, OMIM:var0004 |
- |
F |
- |
United States |
- |
- |
- |
- |
- |
RBM |
classic early onset severe RBM; 8y tracheostomy, G-tube, no antigravity strength; normal ECHO; 3y-lost ability to walk (HP:0006957) |
1 |
1 |
Johan den Dunnen |
00205473 |
- |
PubMed: Schessl 2008, OMIM:var0005 |
- |
F |
- |
United States |
- |
- |
- |
- |
- |
RBM |
classic early onset severe RBM; 6y loss all antigravity strength, death respiratory failure; normal ECHO; 4y6m-lost ability to walk (HP:0006957) |
1 |
1 |
Johan den Dunnen |
00205474 |
- |
PubMed: Schessl 2008, OMIM:var0006 |
mother of 18274675.3; 3-generation family |
F |
- |
United States |
- |
- |
- |
- |
- |
RBM |
normal ECHO; 40y-lost ability to walk (HP:0006957) |
1 |
1 |
Johan den Dunnen |
00205475 |
- |
PubMed: Schessl 2008, OMIM:var0006 |
son of 18274675.m3; 3-generation family |
M |
- |
United States |
- |
>21y |
- |
- |
- |
RBM |
11y ventilatory support; 18y dilated cardiomyopathy; reduced fractional shortening; 8y-lost ability to walk (HP:0006957) |
1 |
1 |
Johan den Dunnen |
00205476 |
- |
PubMed: Schessl 2008, OMIM:var0007 |
mother of 18274675.4; 2-generation family |
F |
- |
United States |
- |
- |
- |
- |
- |
RBM |
normal ECHO |
1 |
1 |
Johan den Dunnen |
00205477 |
- |
PubMed: Schessl 2008, OMIM:var0007 |
son of 18274675.m4; 2-generation family |
M |
- |
United States |
- |
>18y |
- |
- |
- |
RBM |
progressive weakness and contractures; normal ECHO; 16y-lost ability to walk (HP:0006957) |
1 |
1 |
Johan den Dunnen |
00205478 |
- |
PubMed: Kiyomoto 1995 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
RBM |
- |
1 |
1 |
Johan den Dunnen |
00205479 |
- |
PubMed: Ohsawa 2007 |
daugther of 19171836.5 |
F |
- |
Japan |
- |
- |
- |
- |
- |
RBM |
- |
1 |
1 |
Johan den Dunnen |
00205480 |
- |
PubMed: Ohsawa 2007 |
mother of 19171836.4 |
F |
- |
Japan |
- |
- |
- |
- |
- |
RBM |
- |
1 |
1 |
Johan den Dunnen |
00205481 |
- |
PubMed: Kobayashi 1992 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
RBM |
- |
1 |
1 |
Johan den Dunnen |
00205482 |
- |
PubMed: Kiyomoto 1995 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
RBM |
- |
1 |
1 |
Johan den Dunnen |
00205483 |
- |
PubMed: Tiffin 2013 |
3-generation family, 3 affected males, 2 unaffected heterozygous carrier females |
M |
no |
New Zealand |
- |
- |
- |
- |
- |
EDMD |
proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities, genital abnormalities |
1 |
3 |
Johan den Dunnen |
00205484 |
- |
- |
family, 6 affected |
F |
no |
Iran |
- |
- |
- |
- |
- |
MYOP |
- |
1 |
6 |
Zohreh Fattahi |
00205485 |
- |
PubMed: Pen 2013 |
4-generation family, 4 affected males (3 generations), 3 unaffected heterozygous carrier females |
M |
no |
Denmark |
- |
- |
- |
- |
- |
EDMD |
facila dysmorphy, pulmonary artery hypoplasia |
1 |
4 |
Johan den Dunnen |
00220081 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220338 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220437 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220496 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220558 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
2 |
1 |
Madhuri Hegde |
00220699 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220714 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
M |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220723 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
M |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00220814 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221087 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221271 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
M |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221319 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
M |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221761 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221832 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221891 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221905 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00221915 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
M |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00222040 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
M |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00222068 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00222143 |
30564623-Pat |
PubMed: Nallamilli 2018 |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Madhuri Hegde |
00289134 |
P3 |
PubMed: Evilä 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
MYOP |
scapuloperoneal myopathy |
1 |
1 |
Johan den Dunnen |
00295331 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
2 |
Mohammed Faruq |
00302992 |
Pat37 |
PubMed: Helbig 2016 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
seizures |
Focal epilepsy, temporal lobe epilepsy; age onset adolescent |
1 |
1 |
Johan den Dunnen |
00314291 |
- |
PubMed: Topf 2020 |
analysis 1001 patients with unexplained limb-girdle weakness |
- |
- |
- |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Johan den Dunnen |
00314292 |
- |
PubMed: Topf 2020 |
analysis 1001 patients with unexplained limb-girdle weakness |
- |
- |
- |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Johan den Dunnen |
00314536 |
patient |
PubMed: Topf 2020 |
analysis 1001 patients with unexplained limb-girdle weakness |
- |
- |
- |
- |
- |
- |
- |
- |
LGMD |
- |
1 |
1 |
Johan den Dunnen |
00316225 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
4 |
Johan den Dunnen |
00316226 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316227 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316228 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316229 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316230 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316231 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316232 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316233 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316234 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00316235 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
00361990 |
Pat12 |
PubMed: Saat 2021 |
- |
M |
no |
Turkey |
- |
- |
- |
- |
- |
RBM |
Muscle weakness HP:0001324 |
1 |
1 |
Ibrahim Sahin |
00417659 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CMD |
- |
1 |
1 |
Beatrice Alessandrini |
00430893 |
Pat1 |
PubMed: Waddell 2011 |
- |
M |
- |
Australia |
- |
- |
- |
- |
- |
MD |
see paper; ..., 7y-died respiratory failure; normal early gross motor milestones; rapidly progressive muscle weakness; muscle biopsy dystrophic; 4y-repeated falls, waddling gait, difficulty sitting upright, positive Gowers’ sign wasting shoulder girdle and quadriceps muscles, shoulder weakness, lumbar lordosis, respiratory muscle weakness; 5y-normal nerve conduction, ECG normal, elevated serum CK level (700 µ/l), biceps muscle EMG myopathic changes |
1 |
1 |
Johan den Dunnen |