All individuals with variants in gene PYROXD1

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.

85 entries on 1 page. Showing entries 1 - 85.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00183244	FamA/PatD2	PubMed: O'Grady 2016, PubMed: Cummings 2017	2-generation family, 2 affected, brothers unaffected heterozygous carrier parents	M	no	-	white	-	-	-	-	MFM	5y-difficulty running; 20y-slowly progressive muscle weakness; 24y-unable to climb stairs from, slow walk with cane; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) distal laxity, resolved with age; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218), dental malocclusion (HP:0000689), elongated face; 12y-dysphagia (HP:0002015), improved; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); 20y-mild thoracic scoliosis (HP:0002650); no spinal rigidity (-HP:0003306); pectus excavatum (HP:0000767); scapular winging (HP:0003691); pes cavus (HP:0001761); no pet planus (-HP:0001763); 15y-restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); 27y-abnormal septal motion and low normal ejection fraction; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods	2	2	Johan den Dunnen
00183245	FamBPatII2	PubMed: O'Grady 2016	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	-	MFM	onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL,LL, axial; P UL, D LL); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); dysphagia (HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 3x	1	2	Johan den Dunnen
00183246	FamCPatII1	PubMed: O'Grady 2016	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	M	no	Iran	Iran:Jewish	-	-	-	-	MFM	congenital onset hypotonia, mild gross motor delay, 20m-walk, 6y-muscle weakness, increasing difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) elbow and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); surgical correction int. exotropia (HP:0000577); no dysphagia (-HP:002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); 7y mild scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild to moderate pulmonic insufficiency; no elevated CK (-HP:0040081)	2	2	Johan den Dunnen
00183247	FamDPatII1	PubMed: O'Grady 2016	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	MFM	onset 2y, ambulant 22y, difficulty running and climbing, frequent falls, slowly progressive weakness from 20y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783);no cardiac disease; elevated CK (HP:0040081) 3x	1	2	Johan den Dunnen
00183248	FamEPatII2	PubMed: O'Grady 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	MFM	onset 4y, easy fatigue, frequent falls, difficulty on stairs, slowly progressive, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild mitral and tricuspid insufficiency (HP:0001653); no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones	2	1	Johan den Dunnen
00225599	30345904-Fam1288Pat1	PubMed: Saha 2018, Journal: Saha 2018	7-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Sudan	Arab	-	-	-	-	LGMD	see paper; ..., CK level normal; 37y-loss of ambulation; 46y-no cardiac/respiratory complications	1	1	Johan den Dunnen
00225607	30515627-Fam1P1	PubMed: Sainio 2019	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	no	Finland	-	-	-	-	-	LGMD	see paper; ..., adult-onset	2	1	Johan den Dunnen
00225608	30515627-Fam2P2	PubMed: Sainio 2019	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	Finland	-	-	-	-	-	LGMD	see pape;; ..., adult onset	1	2	Johan den Dunnen
00225609	30515627-Fam3P3/P4	PubMed: Sainio 2019	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	no	Finland	-	-	-	-	-	LGMD	see paper; .., adult onset	1	2	Johan den Dunnen
00226274	FamAPatII2	PubMed: O'Grady 2016	younger brother	M	no	-	European	-	-	-	-	MFM	onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); joint hypermobility (HP:0001382) distal laxity, partial patella subluxations; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602); high arched palate (HP:0000218); dental malocclusion (HP:0000689), elongated face; dysphagia (HP:0002015), plus nasal regurgitation from 9y, surgery for VPI; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081) 5x	2	1	Johan den Dunnen
00226313	FamBPatII3	PubMed: O'Grady 2016	brother	M	yes	Turkey	-	-	-	-	-	MFM	onset 10y, still ambulant 31y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial; P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); micrognathia and retrognathia (HP:0000308); no dysphagia (-HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 4x; histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods	1	1	Johan den Dunnen
00226314	FamCPatII2	PubMed: O'Grady 2016	brother	M	no	Iran	Iran:Jewish	-	-	-	-	MFM	infantile onset hypotonia, 13m-walk, stable strength, difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); joint hypermobility (HP:0001382) mild at elbow, wrist, and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); no dysphagia (-HP:0002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; no pectus excavatum (-HP:0000767); mild asymmetric scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); no cardiac disease; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization	2	1	Johan den Dunnen
00226315	FamDPatII3	PubMed: O'Grady 2016	brother	M	yes	Turkey	-	-	-	-	-	MFM	onset 2y6m, 17y ambulant, difficulty climbing, stable in childhood; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783);no cardiac disease; elevated CK (HP:0040081) 2x; histology shows internalized nuclei, central cones	1	1	Johan den Dunnen
00227926	private email	contact me for details	-	F	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00288202	Pat12	PubMed: Lee 2019	-	-	-	United States	-	-	-	-	-	?	heart murmur, muscle cramps, difficulty walking, myalgia, skeletal muscle atrophy, gowers sign, progressive muscle weakness, myopathy, generalized amyotrophy, intention tremor, pain, waddling gait, decreased testosterone	1	1	Johan den Dunnen
00295510	161209	-	-	M	yes	Turkey	-	-	-	-	-	MYOP	Abnormal palate morphology; Elevated serum creatine kinase; Hyperlordosis; Axial muscle weakness; Proximal muscle weakness in upper limbs	1	1	Andreas Laner
00314408	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	4	Johan den Dunnen
00336098	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341466	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341467	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341468	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341469	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	2	BRIDGES consortium
00341470	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341471	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341472	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341473	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341474	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341475	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341476	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341477	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	2	BRIDGES consortium
00341478	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341479	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00341945	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	3	BRIDGES consortium
00348678	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348679	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	2	BRIDGES consortium
00348680	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348681	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	2	BRIDGES consortium
00348682	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348683	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348684	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348685	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348686	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348687	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348688	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348689	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	2	BRIDGES consortium
00348690	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348691	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	2	BRIDGES consortium
00348692	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00348693	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	4	BRIDGES consortium
00348694	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00349203	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	2	BRIDGES consortium
00349377	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353595	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	4	BRIDGES consortium
00353596	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353597	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353598	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	3	BRIDGES consortium
00353599	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353600	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	7	BRIDGES consortium
00353601	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353602	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	2	BRIDGES consortium
00353603	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353604	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	3	BRIDGES consortium
00353605	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	1	BRIDGES consortium
00353606	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	4	BRIDGES consortium
00353607	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	7	BRIDGES consortium
00353608	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 60466 cases (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	cancer, breast	-	1	3	BRIDGES consortium
00353979	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00354153	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	5	BRIDGES consortium
00358371	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	3	BRIDGES consortium
00358372	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	2	BRIDGES consortium
00358373	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00358374	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	3	BRIDGES consortium
00358375	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00358376	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	7	BRIDGES consortium
00358377	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00358378	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	2	BRIDGES consortium
00358379	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	2	BRIDGES consortium
00358380	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00358381	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	1	BRIDGES consortium
00358382	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	2	BRIDGES consortium
00358383	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	7	BRIDGES consortium
00358384	-	PubMed: Dorling 2021, Journal: Dorling 2021	analysis 53461 controls (BRIDGES)	-	-	-	-	-	-	bcac.ccge.medschl.cam.ac.uk/contact	-	Healthy/Control	-	1	3	BRIDGES consortium
00398957	Fam54Pat60	PubMed: Natera-de Benito 2021	patient	F	-	Spain	-	-	-	-	-	MYOP	weakness; 1y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; scoliosis (no surgery); 20y-no cardiac involvement	2	1	Johan den Dunnen
00448529	patient	-	-	M	no	India	-	-	-	-	-	MYOP	delay in motor milestones, fatigable proximal limb weakness, difficulty to get up from squatting position, difficulty in doing overhead activities, toe walking with frequent falls, chewing and swallowing difficulties	1	1	Gautham Arunachal
00473429	Fam210091Pat737	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	no	Iran	-	-	-	-	-	MYOP	Sporadic case, 48y old, progressive proximal lower muscle weakness started 14y , distal lower muscle weakness, proximal upper muscle weakness, walking inability, axial weakness and rigid spine, myopathic face ,normal CPK, non irritable myopathy reported in EDX and increased predominantly internalized nuclei, inter myofibrillar network disruption as lobulated -like fibers suggestive chronic dystrphic pattern reported in muscle biopsy.	1	1	Johan den Dunnen

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PYROXD1 (pyridine nucleotide-disulphide oxidoreduct...)