Disease #00884 (LDS (Loeys-Dietz syndrome (LDS)))

Official abbreviation	LDS
Name	Loeys-Dietz syndrome (LDS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	54
Phenotype entries for this disease	53
Associated with 6 genes	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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'

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54 entries on 1 page. Showing entries 1 - 54.

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
00303326	P41	-	-	M	no	India	-	-	-	-	-	LDS	Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634), Scoliosis (HP:0002650)	-	TGFBR1	1	2	Katta M Girisha
00303327	P43	-	-	M	no	India	-	-	-	-	-	LDS	Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634)	TGFBR1	TGFBR2	1	1	Katta M Girisha
00303328	P44	-	-	F	no	India	-	-	-	-	-	LDS	Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634), Cleft palate (HP:0000175)	TGFBR2	TGFBR2	1	1	Katta M Girisha
00324288	P56	-	-	M	no	India	-	-	-	-	-	LDS	joint dislocation (HP:0001373)	TGFBR2	TGFBR2	1	1	Katta M Girisha
00386488	-	-	-	F	yes	(China)	-	-	-	-	-	LDS	-	FOXC2	FOXC2	1	1	Yi Shi
00398310	family	PubMed: Ye 2013	3-generation family, 5 affected (3F, 2M)	F;M	-	China	-	-	-	-	-	LDS	see paper; ..., aortic aneurysm	SMAD3	SMAD3	1	5	Johan den Dunnen
00398312	FamTAA549	PubMed: Regalado 2011	4-generation family, 11 affected (6F, 5M)	F;M	-	United States	-	-	-	-	-	LDS	see paper; ...	SMAD3	AFAP1L1, ANKRD30A, BICC1, C10orf71, CCSAP, FAM13C, KIAA1731, OOEP, OR4K13, RFX7, SECISBP2L, SMAD3	12	1	Johan den Dunnen
00398313	FamTAA071	PubMed: Regalado 2011	3-generation family, 8 affected (3F, 5M)	F;M	-	United States	-	-	-	-	-	LDS	see paper; ...	SMAD3	SMAD3	1	8	Johan den Dunnen
00398314	FamTAA072	PubMed: Regalado 2011	4-generation family, 6 affected (2F, 6M)	F;M	-	United States	-	-	-	-	-	LDS	see paper; ...	SMAD3	SMAD3	1	6	Johan den Dunnen
00398315	FamTAA365	PubMed: Regalado 2011	2-generation family, 3 affected (F, 2M)	F;M	-	United States	-	-	-	-	-	LDS	see paper; ...	SMAD3	SMAD3	1	3	Johan den Dunnen
00398316	FamTAA115	PubMed: Regalado 2011	2-generation family, 3 affected (F, 2M)	F;M	-	United States	-	-	-	-	-	LDS	see paper; ...	SMAD3	SMAD3	1	3	Johan den Dunnen
00398332	Fam2PatIII4	PubMed: Schubert 2016	3-generation family, affected father/son	M	-	United States	-	-	-	-	-	LDS	see paper; ..., mild TAA	-	NOTCH1, SKI, SMAD3	3	2	Johan den Dunnen
00398333	Fam1PatIII3	PubMed: Schubert 2016	3-generation family, affected father/son	M	-	United States	-	-	-	-	-	LDS	see paper; ..., borderline TAA	-	FBN2, TGFB2	2	2	Johan den Dunnen
00398334	Fam3PatII1	PubMed: Schubert 2016	3-generation family, affected father/2 sons	M	-	United States	-	-	-	-	-	LDS	see paper; ..., mild TAA	-	MFAP5, MYLK	2	3	Johan den Dunnen
00418534	PatI	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418535	FamPatIIA	PubMed: Almpani 2022	family, proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	2	Johan den Dunnen
00418536	FamPatIIB	PubMed: Almpani 2022	offspring	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418537	FamPatIIIA	PubMed: Almpani 2022	family, proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	2	Johan den Dunnen
00418538	FamPatIIIB	PubMed: Almpani 2022	mother	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418539	PatIV	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418540	PatV	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418541	PatVI	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418542	FamPatVIIA	PubMed: Almpani 2022	family, proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	2	Johan den Dunnen
00418543	FamPatVIIB	PubMed: Almpani 2022	offspring	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418544	PatVIII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418545	PatIX	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418546	PatX	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418547	PatXI	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418548	PatXII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR1	TGFBR1	1	1	Johan den Dunnen
00418549	FamPatXIIIA	PubMed: Almpani 2022	family, proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	2	Johan den Dunnen
00418550	FamPatXIIIB	PubMed: Almpani 2022	offspring	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418551	PatXIV	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418552	PatXV	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418553	PatXVI	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418554	PatXVII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418555	PatXVIII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418556	PatXIX	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418557	PatXX	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418558	PatXXI	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418559	PatXXII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418560	PatXXIII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418561	PatXXIV	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418562	PatXXV	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFBR2	TGFBR2	1	1	Johan den Dunnen
00418563	FamPatXXVIA	PubMed: Almpani 2022	family, proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	SMAD3	SMAD3	1	3	Johan den Dunnen
00418564	FamPatXXVIB	PubMed: Almpani 2022	mother	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	SMAD3	SMAD3	1	1	Johan den Dunnen
00418565	FamPatXXVIC	PubMed: Almpani 2022	sibling	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	SMAD3	SMAD3	1	1	Johan den Dunnen
00418566	PatXXVII	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	1	Johan den Dunnen
00418567	FamPatXXVIIIA	PubMed: Almpani 2022	family, proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	3	Johan den Dunnen
00418568	FamPatXXVIIIB	PubMed: Almpani 2022	offspring	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	1	Johan den Dunnen
00418569	FamPatXXVIIIC	PubMed: Almpani 2022	offspring	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	1	Johan den Dunnen
00418570	FamPatXXIXA	PubMed: Almpani 2022	family, father	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	3	Johan den Dunnen
00418571	FamPatXXIXB	PubMed: Almpani 2022	sibling	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	1	Johan den Dunnen
00418572	FamPatXXIXC	PubMed: Almpani 2022	offspring	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB2	TGFB2	1	1	Johan den Dunnen
00418573	PatXXX	PubMed: Almpani 2022	proband	-	-	United States	-	-	-	-	-	LDS	see paper (extensive phenotyping)	TGFB3	TGFB3	1	1	Johan den Dunnen

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Global Variome shared LOVD

EBP (emopamil binding protein (sterol isomerase))