All individuals with variants in gene FBN1

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.

387 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00003031	-	-	-	F	no	Russian Federation	russian	-	-	-	?	-	1	1	Yulia Rogozhina
00003035	-	-	-	F	no	Russian Federation	russian	-	-	-	-	-	1	1	Yulia Rogozhina
00004042	-	-	-	M	no	- (not applicable)	russian	>01y	-	-	MFS	-	1	1	Yulia Rogozhina
00035734	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035735	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035736	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035737	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035738	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035739	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035740	-	-	-	-	-	Germany	-	-	-	-	?	non-ischemic CMP und AI Grade 2- 3, both daughters have lens luxation	1	1	Andreas Laner
00035741	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035742	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035743	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035744	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035745	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035746	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation bilateral., somatomegaly	1	1	Andreas Laner
00035747	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation bilateral., somatomegaly	1	1	Andreas Laner
00035748	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035749	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035750	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035751	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035752	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation bilateral	1	1	Andreas Laner
00035753	-	-	-	-	-	Germany	-	-	-	-	MFS	Marfan syndrome	1	1	Andreas Laner
00035754	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035755	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035756	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035757	-	-	-	-	-	Germany	-	-	-	-	MFS	Marfan syndrome	1	1	Andreas Laner
00035758	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035759	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035760	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation bilateral., somatomegaly	1	1	Andreas Laner
00035761	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035762	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation bilateral	1	1	Andreas Laner
00035763	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035764	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035765	-	-	-	-	-	Germany	-	-	-	-	MFS	Marfan syndrome, familial	1	1	Andreas Laner
00035766	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035767	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035768	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035769	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035770	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035771	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035772	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035773	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035774	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035775	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035776	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035777	-	-	-	-	-	Germany	-	-	-	-	?	lens luxation, family history normal	1	1	Andreas Laner
00035778	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035779	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035780	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035781	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035782	-	-	-	-	-	Germany	-	-	-	-	?	Weill-Marchesani syndrome	1	1	Andreas Laner
00035783	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035784	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035785	-	-	-	-	-	Germany	-	-	-	-	MFS	Marfan syndrome	1	1	Andreas Laner
00035786	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035787	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035788	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035789	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035790	-	-	-	-	-	Germany	-	-	-	-	MFS	Marfan syndrome, familial	1	1	Andreas Laner
00035791	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035792	-	-	-	-	-	Germany	-	-	-	-	?	suspected Marfan syndrome	1	1	Andreas Laner
00035793	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035794	-	-	-	-	-	Germany	-	-	-	-	?	Myopia, ectopia lentis downward and glaukome in patient, his father, and myopia in his younger brother	1	1	Andreas Laner
00035795	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035796	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035797	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035798	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035799	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035800	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00050496	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected mother/child	M	-	United Kingdom (Great Britain)	-	-	Decipher	-	?	tracheomalacia, tracheoesophageal fistula, preauricular pit, duplication of phalanx of thumb, thoracic scoliosis	1	2	Johan den Dunnen
00053061	-	-	-	M	-	Iran	Iranian	-	-	-	MFS	Marfan syndrome, ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height	1	1	Ramona Haji-Seyed-Javadi
00053062	-	-	-	F	-	Sweden	-	>5y	-	-	ECTOL1	bilateral ectopia lentis	1	1	Kristina Lagerstedt Robinson
00053063	-	-	-	F	-	Sweden	-	>41y	-	-	MFS	Marfan syndrome	1	1	Kristina Lagerstedt Robinson
00053064	-	-	-	M	-	Finland	-	>41y	-	-	MFS	Marfan sydnrome,aortic dissection, dural ectasia	1	1	Kristina Lagerstedt Robinson
00053065	-	-	-	M	-	Jordan	-	>37y	-	-	MFS	Marfan syndrome,tall stature, aortic dissection, long narrow feet	1	1	Kristina Lagerstedt Robinson
00053066	-	-	-	M	-	Sweden	-	>9y	-	-	MFS	Marfan syndrome	1	1	Kristina Lagerstedt Robinson
00053067	-	-	-	M	no	-	-	-	-	-	MFS	Marfan syndrome	1	1	Paul Coucke
00053068	-	PubMed: Carmignac 2014, Journal: Carmignac 2014	-	M	no	-	-	>15y	-	-	?	non-SGS marfanoid-craniosynostosis; craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, no hypertelorism, no proptosis, no downslanting palpebral fissures, no micrognathiaretrognathia, no intellectual disability, hernias, no loss of subcutaneous fat, valvular anomalies, aortic root dilatation requiring surgery in childhood, no myopia	1	1	Johan den Dunnen
00081038	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	MFS	Marfan syndrome (OMIM:154700)	1	1	Daniel Trujillano
00100212	-	-	-	-	-	Germany	-	-	-	-	MFS	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00134051	-	-	-	F	-	(Germany)	-	-	-	-	?	HP:0003549 (Abnormality of connective tissue)	1	1	IMGAG
00151813	-	-	-	F	-	(Germany)	-	-	-	-	?	Delayed speech and language development (HP:0000750); Generalized joint laxity (HP:0002761)	1	1	IMGAG
00152020	-	-	-	-	-	-	-	-	-	-	MFS	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00164695	-	-	-	M	no	Netherlands	-	-	-	-	Healthy/Control	-	1	1	Eveline Boudin
00164697	-	-	-	M	no	Netherlands	white	-	yes	-	?	HP:0000098, HP:0001166, HP:0001724, HP:0001382	1	3	Eveline Boudin
00181211	-	-	-	F	-	-	-	-	-	-	?	Aortic root aneurysm (HP:0002616); Ascending aortic dissection (HP:0004933)	1	1	IMGAG
00207904	-	-	-	-	-	-	-	-	-	-	MFS	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00207966	-	-	-	M	-	Germany	-	-	-	-	-	HP:0001634 (Mitral valve prolapse); HP:0001166 (Arachnodactyly); HP:0000276 (Long face)	1	1	Andreas Laner
00229824	Individual 1	-	-	M	no	Italy	-	27y	-	-	MFS	Dilatation of the aortic root and ascending aorta, minimal insufficiency of the aortic valve, prolapse of the anterior mitral leaflet, mild insufficiency of the tricuspid valve, progressive scoliosis, spontaneous pneumothorax, mild myopia (-2 diopters on the right and -1.5 diopters on the left), bilateral positive wrist sign, bilateral negative thumb sign, apparent enophthalmos, downslanting palpebral fissures, malar hypoplasia, high-arched palate, severe scoliosis, pectus carinatum, bilateral valgus deformity of the elbow, bilateral metatarsus varus, some mildly atrophic post-surgical scars of the thorax, and striae rubrae of the back.	1	1	Carmela Fusco
00229832	individual 2	-	-	F	?	Italy	-	-	-	-	MASS	Chronic back pain, diffuse spondylosis and marked dural ectasias of the lumbar spine. Moderately severe scoliosis since her teens, severe myopia (-6 diopters on the right and -8 dipters on the left) and chronic fatigue. Physical examination showed height 181 cm, weight 80 cm, arm span 188 cm, arm span/height ratio 1.038 (normal), bilaterally positive wrist and thumb signs, hypermobility of fingers but Beighton score 0/9, elbow limitation on both sides, enophthalmos, downslanting palpebral fissures, retrognathia, high-arched palate, striae distensae of the shoulders. Presence of 10 points of systemic features and an aortic root diameter < 2 SD.	1	1	Carmela Fusco
00234330	-	-	-	F	-	-	-	-	-	-	?	HP:0005294 (Arterial dissection)	1	1	IMGAG
00239167	-	-	-	F	-	-	-	-	-	-	?	HP:0000218 (High palate)	1	1	IMGAG
00248176	-	-	-	M	-	Russia	-	>33y	-	-	MFS	Myopia, Dental crowding, Pectus excavatum, Joint hypermobility, Arachnodactyly, Tall stature	1	1	Valeriia Apukhtina
00269781	-	-	-	-	-	-	-	-	-	-	MFS	-	2	1	Gemeinschaftspraxis für Humangenetik Dresden
00269782	-	-	-	-	-	-	-	-	-	-	MFS	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00274062	P3	PubMed: Wei 2011	-	-	-	China	-	-	-	-	MFS	-	1	1	Johan den Dunnen
00289348	-	-	-	F	-	-	-	-	-	-	?	Muscular hypotonia (HP:0001252); Toe syndactyly (HP:0001770); Disproportionate tall stature (HP:0001519); Scoliosis (HP:0002650); Myopathy (HP:0003198)	1	1	Andreas Laner
00291232	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	3	Mohammed Faruq
00291233	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	0	Mohammed Faruq

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Global Variome shared LOVD

FBN1 (fibrillin 1)