Disease #01944 (LGMDR5;LGMD2C (dystrophy, muscular, limb-girdle, autosomal recessive, type 5 (LGMD2C)), OMIM:253700)

Official abbreviation	LGMDR5;LGMD2C
Name	dystrophy, muscular, limb-girdle, autosomal recessive, type 5 (LGMD2C)
OMIM ID	253700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	20
Phenotype entries for this disease	20
Associated with 1 gene	SGCG
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-01-12 20:49:29 +01:00 (CET)

Individuals

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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
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Antigua and Barbuda
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Argentina
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Armenia
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Aruba
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Australia
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Austria
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Azerbaijan
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Bahamas
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Bahrain
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Bangladesh
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Barbados
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Bolivia
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Bosnia and Herzegovina
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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
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Djibouti
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
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El Salvador
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England
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Equatorial Guinea
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Eritrea
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Estonia
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Ethiopia
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Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
(Georgia)
Germany
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Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
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Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
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Heard and McDonald Islands
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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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
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nepal
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Netherlands
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Neutral Zone (Saudia Arabia/Iraq)
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New Caledonia
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New Zealand
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Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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Papua New Guinea
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Paraguay
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Peru
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Philippines
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Pitcairn
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Poland
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Polynesia, French
(Polynesia, French)
Portugal
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Puerto Rico
(Puerto Rico)
Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
(Senegal)
Serbia
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Seychelles
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Sierra Leone
(Sierra Leone)
Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
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Somalia
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South Africa
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Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
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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
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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.

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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
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Example	Matches
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20 entries on 1 page. Showing entries 1 - 20.

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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
00072206	25802879-Fam1Pat1	PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents/half-sisters	F	no	Puerto Rico	Hispanic	>11y	-	-	-	LGMDR5;LGMD2C	proximal muscle weakness (HP:0003701), no motor delay (-HP:0001270), no cognitive impairment (-HP:0100543), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371)	SGCG	SGCG	1	1	Jamie Zeegers
00072208	25802879-Fam2Pat2	PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	yes	Puerto Rico	Puerto Rican	>18y	-	-	-	LGMDR5;LGMD2C	proximal muscle weakness (HP:0003701), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371), pelvic girdle muscles weakness (HP:0003749), lordosis (HP:0003307), waddling gait (HP:0002515), macroglossia (HP:0000158), no facial weakness (-HP:0010628)	SGCG	SGCG	1	1	Jamie Zeegers
00133283	-	PubMed: Eymard 1997	-	F	no	Italy	Europe	-	-	-	-	LGMDR5;LGMD2C	clinical grade V; elevated CPK (HP:0003236); >17y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133298	-	PubMed: Eymard 1997, PubMed: Crosbie 2000	-	M	no	France	Europe	>24y	-	-	-	LGMDR5;LGMD2C	clinical grade VI/VII; 21y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133299	-	PubMed: Eymard 1997, PubMed: Crosbie 2000	-	F	no	France	Europe	-	-	-	-	LGMDR5;LGMD2C	clinical grade III; >26y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133301	-	PubMed: Higuchi, PubMed: Higuchi	-	M	-	Japan	-	-	-	-	-	LGMDR5;LGMD2C	13y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133309	-	PubMed: Eymard 1997	-	M	no	France	Europe	-	-	-	-	LGMDR5;LGMD2C	severe (clinical grade VII), walk tip-toe; 22y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133353	-	PubMed: Eymard 1997	-	M	no	France	Europe	-	-	-	-	LGMDR5;LGMD2C	clinical grade IV, walk tip-toe; >36y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133366	-	PubMed: Crosbie 2000	5 affecteds, 3 deceased	-	-	Japan	-	-	-	-	-	LGMDR5;LGMD2C	-	SGCA	SGCA	2	5	Johan den Dunnen
00133370	-	PubMed: Piccolo, PubMed: Carrie	-	F;M	-	Morocco	-	-	-	-	-	LGMDR5;LGMD2C	severe; 22y-inable to walk (HP:0002540)/10y-inable to walk (HP:0002540)-	SGCA	SGCA	2	1	Johan den Dunnen
00133373	-	PubMed: Eymard 1997	-	M	no	Italy	Europe	-	-	-	-	LGMDR5;LGMD2C	clinical grade III; >25y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133386	-	PubMed: Love	-	M	-	India	-	>25y	-	-	-	LGMDR5;LGMD2C	1108 elevated CPK (HP:0003236)	SGCA	SGCA	1	1	Johan den Dunnen
00133387	-	PubMed: Eymard 1997, PubMed: Crosbie 2000	sister of 11-JO.1	F	-	France	Europe	-	-	-	-	LGMDR5;LGMD2C	clinical grade III; >31y-inable to walk (HP:0002540)	SGCA	SGCA	1	1	Johan den Dunnen
00133388	-	PubMed: Eymard 1997	sister of 11-JO.2	F	-	France	Europe	-	-	-	-	LGMDR5;LGMD2C	clinical grade III; >33y-inable to walk (HP:0002540)	SGCA	SGCA	1	1	Johan den Dunnen
00133391	-	PubMed: Eymard 1997	-	F	?	Algeria	Africa N.	>19y	-	-	-	LGMDR5;LGMD2C	severe (clinical grade VII), walk tip-toe; 14y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133472	-	PubMed: Eymard 1997, PubMed: Crosbie 2000	-	M	?	Algeria	Africa N.	>20y	-	-	-	LGMDR5;LGMD2C	severe (clinical grade VII), walk tip-toe; 13y-inable to walk (HP:0002540)	SGCA	SGCA	2	1	Johan den Dunnen
00133511	-	-	-	F	?	(Italy)	white	-	-	-	-	LGMDR5;LGMD2C	-	SGCA	SGCA	1	1	Marina Fanin
00133513	-	-	-	M	?	-	white	-	-	-	-	LGMDR5;LGMD2C	-	SGCA	SGCA	2	1	Marina Fanin
00213094	DMD-1762	PubMed: Alcantara-Ortigoza 2019	-	M	?	Mexico	Mexican	>08y	-	no	-	LGMDR5;LGMD2C	Suspected Duchenne muscular dystrophy, but with normal results on multiplex PCR and MLPA for DMD gene	-	SGCG	1	1	Miguel Angel Alcántara-Ortigoza
00431575	214351	-	-	M	likely	Turkey	-	-	-	-	-	LGMDR5;LGMD2C	Elevated circulating creatine kinase concentration, Muscle atrophy	SGCG	SGCG	1	1	Andreas Laner

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Global Variome shared LOVD

SGCB (sarcoglycan, beta (43kDa dystrophin-associat...))