Disease #00196 (CGL2 (lipodystrophy, congenital generalized, type 2 (CGL-2)), OMIM:269700)

Official abbreviation	CGL2
Name	lipodystrophy, congenital generalized, type 2 (CGL-2)
OMIM ID	269700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	97
Phenotype entries for this disease	97
Associated with 1 gene	BSCL2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-09-10 21:02:34 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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97 entries on 1 page. Showing entries 1 - 97.

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
00002709	-	PubMed: Magre 2001	8generation family, 20 affecteds	-	yes	Lebanon	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	20	María-Jesús Sobrido
00002711	-	PubMed: Magre 2001	6generation family, 4 affecteds	-	yes	Lebanon	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	4	María-Jesús Sobrido
00002713	-	PubMed: Magre 2001	4generation family, 2 affecteds	-	yes	Lebanon	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002715	-	PubMed: Magre 2001	4generation family, 2 affecteds	-	yes	Lebanon	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002717	-	PubMed: Magre 2001	4generation family, 1 affected	-	yes	Lebanon	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002719	-	PubMed: Magre 2001	5generation family, 2 affecteds	-	yes	Norway	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002721	-	PubMed: Magre 2001	5generation family, 1 affected	M	no	Norway	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002723	-	PubMed: Magre 2001	5generation family, 2 affecteds	-	no	Norway	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002725	-	PubMed: Magre 2001	6generation family, 1 affected	M	yes	Norway	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002727	-	PubMed: Magre 2001	3generation family, 1 affected	M	no	Norway	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002729	-	PubMed: Magre 2001	6generation family, 1 affected	M	yes	Italy	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002731	-	PubMed: Magre 2001	2generation family, 2 affecteds	-	no	United Kingdom (Great Britain)	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002733	-	PubMed: Magre 2001	5generation family, 1 affected	F	yes	India	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002734	-	PubMed: Magre 2001	5generation family, unaffected carrier parent	F	yes	India	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002735	-	PubMed: Magre 2001	4generation family, 1 affected	M	yes	Turkey	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002737	-	PubMed: Magre 2001	5generation family, 1 affected	F	yes	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002739	-	PubMed: Magre 2001	4generation family, affected twins	-	yes	France	Portugeuse	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002741	-	PubMed: Magre 2001	4generation family, 2 affecteds	-	yes	France	Portugeuse	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002743	-	PubMed: Magre 2001	4generation family, 2 affecteds	-	yes	Portugal	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002744	-	PubMed: Magre 2001	4generation family, 1 affected	F	yes	South Africa	Portugeuse	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002746	-	PubMed: Magre 2001	2generation family, 1 affected	F	no	South Africa	Portugeuse	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002748	-	PubMed: Magre 2001	-	-	no	France	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002749	-	PubMed: Magre 2001	-	-	yes	France	Turkish	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002750	-	PubMed: Magre 2001	-	-	yes	Portugal	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL)	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002751	-	PubMed: Agarwal 2003	4generation family, affected sister	F	yes	Pakistan	Pakistani	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002752	-	PubMed: Agarwal 2003	4generation family, affected sister	F	yes	Pakistan	Pakistani	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002754	-	PubMed: Agarwal 2003	2-generation family, affected brother	M	yes	Turkey	Turkish	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002756	-	PubMed: Agarwal 2003	2-generation family, affected brother	M	yes	Turkey	Turkish	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002757	-	PubMed: Agarwal 2003	2generation family, 1 affected	F	no	United States	Chinese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002759	-	PubMed: Agarwal 2003	2generation family, 1 affected	M	no	United States	white; native Indian	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002761	-	PubMed: Agarwal 2003	2-generation family, affected brother	M	no	United States	Chinese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002762	-	PubMed: Agarwal 2003	2generation family, affected sister	F	no	United States	Chinese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002764	-	PubMed: Agarwal 2003	2generation family, affected sister	F	no	United Kingdom (Great Britain)	white	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002765	-	PubMed: Agarwal 2003	2-generation family, affected brother	M	no	United Kingdom (Great Britain)	white	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002767	-	PubMed: Agarwal 2003	3generation family, 1 affected	F	no	Portugal	white	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; no MR; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002768	-	PubMed: Agarwal 2003	2generation family, 1 affected	M	yes	United States	Lebanese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002769	-	PubMed: Agarwal 2003	4generation family, 3 affected	M	yes	United States	Lebanese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; mental retardation; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002770	-	PubMed: Agarwal 2003	4generation family, 3 affected	F	yes	United States	Lebanese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002771	-	PubMed: Agarwal 2003	4generation family, 3 affected	M	yes	United States	Lebanese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); no diabetes mellitus; no MR; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002772	-	PubMed: Agarwal 2003	2generation family, 1 affected	M	no	United States	Lebanese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; no cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002773	-	PubMed: Agarwal 2003	2generation family, 1 affected	M	no	United States	Lebanese	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy (BSCL); diabetes mellitus; mental retardation; cardiomyopathy	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002790	-	PubMed: Ebihara 2004	4generation family, 1 affected	M	yes	Japan	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy, congenital	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002792	-	PubMed: Ebihara 2004	4generation family, 1 affected	F	yes	Japan	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy, congenital	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002794	-	PubMed: Ebihara 2004	5generation family, 1 affected	F	yes	Japan	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy, congenital	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002798	-	PubMed: Mandal 2006	affected twin pair	?	no	India	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy, congenital	BSCL2	BSCL2	1	2	María-Jesús Sobrido
00002799	-	PubMed: Mandal 2006	1 affected	M	yes	India	-	-	-	-	-	CGL2	BerardinelliSeip lipodystrophy, congenital	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002815	-	-	2generation family, 1 affected	M	yes	China	-	-	-	-	-	CGL2	lipodystrophy, congenital generalized; early-onset diabetes mellitus	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002817	-	-	1 affected	F	no	India	-	-	-	-	-	CGL2	lipodystrophy, congenital generalized; normal intellectual development; 13y-diabetes mellitus	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002818	-	-	2generation family, 1 affected	F	yes	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip syndrome	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002820	-	-	2generation family, 1 affected	M	yes	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip syndrome	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002822	-	-	2generation family, 2 affecteds	-	yes	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip syndrome	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002824	-	-	3generation family, 2 affecteds (grandfather/child)	-	yes	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip syndrome	BSCL2	BSCL2	2	2	María-Jesús Sobrido
00002826	-	-	2generation family, 1 affected	M	yes	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip syndrome	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002828	-	-	2generation family, 1 affected	F	no	Brazil	-	-	-	-	-	CGL2	BerardinelliSeip syndrome	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002831	-	-	1 affected	M	yes	Japan	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002854	-	-	-	-	-	-	-	-	-	-	-	CGL2	-	-	-	-	1	María-Jesús Sobrido
00002857	-	PubMed: Bhayana et al., Clin. Genet. 2002	2 generation family , 1 affected	F	no	Portugal	white	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002868	-	PubMed: Ebihara 2004	4 generation family, 1 affected	-	yes	Japan	-	-	-	-	-	CGL2	-	-	-	-	1	María-Jesús Sobrido
00002869	-	PubMed: Friguls et al., Eur. J. Med. Genet. 2009	2 generation family, 1 affected	M	no	China	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	2	1	María-Jesús Sobrido
00002870	-	PubMed: Gomes 2004	2 generation family	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002871	-	PubMed: Gomes 2004	2 generation family, 3 affected	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002872	-	PubMed: Gomes 2004	2 generation family, 3 affected	F	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002873	-	PubMed: Gomes 2004	2 generation family, 3 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002874	-	PubMed: Gomes 2004	4 generation family, 2 affected	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002875	-	PubMed: Gomes 2004	4 generation family, 2 affected	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002876	-	PubMed: Gomes 2004	4 generation family, 3 affected	M	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002877	-	PubMed: Gomes 2004	4 generation family, 3 affected	M	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002878	-	PubMed: Gomes 2004	4 generation family, 3 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002879	-	PubMed: Gomes 2004	2 generation family, 1 affected	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002880	-	PubMed: Gomes 2004	2 generation family, 1 affected	F	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002881	-	PubMed: Gomes 2004	2 generation family, 1 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002882	-	PubMed: Gomes 2004	2 generation family, 2 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002883	-	PubMed: Gomes 2004	2 generation family, 2 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002884	-	PubMed: Gomes 2004	2 generation family, 2 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002885	-	PubMed: Gomes 2004	2 generation family, 2 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002886	-	PubMed: Gomes 2004	2 generation family, 1 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002887	-	PubMed: Gomes 2004	2 generation family, 1 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002888	-	PubMed: Gomes 2004	2 generation family, 1 affected	F	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002889	-	PubMed: Gomes 2004	2 generation family, 1 affected	F	yes	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002890	-	PubMed: Gomes 2004	2 generation family, 1 affected	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002891	-	PubMed: Gomes 2004	2 generation family, 1 affected	M	no	Brazil	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002892	-	PubMed: Huang et al., Kaohsiung J. Med. Sci. 2010	2 generation family, 1 affected	M	no	Taiwan	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	2	1	María-Jesús Sobrido
00002893	-	PubMed: Boutet et al., Biochimie 2009	1 affected	M	?	Norway	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002894	-	PubMed: Boutet et al., Biochimie 2009	2 affected	-	?	Portugal	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	2	María-Jesús Sobrido
00002895	-	PubMed: Boutet et al., Biochimie 2009	8 affected	-	?	Lebanon	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	8	María-Jesús Sobrido
00002896	-	PubMed: Boutet et al., Biochimie 2009	1 affected	-	?	Turkey	-	-	-	-	-	CGL2	-	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002897	-	PubMed: Magre et al., Nat. Genet. 2001	4 generation family, 2 affected	-	yes	France	-	-	-	-	-	CGL2	-	-	-	-	2	María-Jesús Sobrido
00002900	-	PubMed: Nishiyama et al., Pediatr. Int. 2009	1 affected	M	yes	Japan	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002902	-	PubMed: Raygada et al., Clin. Genet. 2005	2 affected	-	yes	Lebanon	-	-	-	-	-	CGL2	-	BSCL2	BSCL2	1	2	María-Jesús Sobrido
00002905	-	PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009	1 affected	M	no	Taiwan	-	-	-	-	-	CGL2	dystonia	BSCL2	BSCL2	1	1	María-Jesús Sobrido
00002906	-	PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009	1 affected	M	?	Taiwan	-	-	-	-	-	CGL2	dystonia	BSCL2	BSCL2, HNRNPUL2-BSCL2	1	1	María-Jesús Sobrido
00002909	-	PubMed: GuillenNavarro 2013	5generation family, 1 affected	F	no	Spain	-	8y	-	-	-	CGL2	BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); neurodegeneration; 19m-walk; 21m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy; first months of life lipodystrophy, muscular hypertrophy, hyper-triglyceridemia, hepatomegaly; 3y-neurological involution; 4y-seizures; 8y-died of aspirative pneumonia	BSCL2	BSCL2	2	1	Johan den Dunnen
00002911	-	PubMed: GuillenNavarro 2013	3generation family, 1 affected	M	no	Spain	-	8y	-	-	-	CGL2	BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); neurodegeneration; 12m-walk; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, spasticity, ataxic gait, no sleep disturbances, lipodystrophy, muscular hypertrophy, acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-seizures; 4y-neurological involution; 8y-died of respiratory failure in status epileptics	BSCL2	BSCL2	2	1	Johan den Dunnen
00002914	-	PubMed: GuillenNavarro 2013	4generation family, 1 affected	F	yes	Spain	-	-	-	-	-	CGL2	BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); 16m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, sleep disturbances, no lipodystrophy, no muscular hypertrophy, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, unknown hyper-triglyceridemia, no hepatomegaly; 19m-walk; 4y-seizures, neurological involution; 6y-deceased	BSCL2	BSCL2, HNRNPUL2-BSCL2	2	1	Johan den Dunnen
00002971	-	PubMed: Guillen-Navarro 2013	4-generation family, affected male patient 3	M	no	Spain	-	7y	-	-	-	CGL2	walk 13m; 24m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, lipodystrophy, muscular hypertrophy, no acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, no hyper-triglyceridemia, no hepatomegaly; 2.5y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125)	BSCL2	BSCL2, HNRNPUL2-BSCL2	2	1	Johan den Dunnen
00002972	-	PubMed: Guillen-Navarro 2013	4-generation family, affected male patient 4	M	no	Spain	-	7y	-	-	-	CGL2	7m-psychomotor delay; walk 15m; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125)	BSCL2	BSCL2	2	1	Johan den Dunnen
00002973	-	PubMed: Guillen-Navarro 2013	4-generation family, affected female patient 5	F	no	Spain	-	>4y	-	-	-	CGL2	walk 16m; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, no spasticity, no ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-no seizures, no neurological involution; lipodystrophy (HP:0009125)	BSCL2	BSCL2, HNRNPUL2-BSCL2	2	1	Johan den Dunnen

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Global Variome shared LOVD

RAC3 (ras-related C3 botulinum toxin substrate 3 ...))