All individuals with variants in gene FOXC2

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.

105 entries on 2 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00055224	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055225	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055226	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00055227	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055228	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00055229	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055230	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055231	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055232	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055233	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055234	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055235	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00055236	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055237	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	2	Michel van Geel
00055238	-	-	7 affecteds	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	7	Michel van Geel
00055239	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055240	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055241	-	-	affecteds in 3 generations	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	3	Michel van Geel
00055242	-	-	affecteds in 3 generations	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	3	Michel van Geel
00055243	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055244	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055245	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055246	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055247	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055248	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055249	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055250	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055251	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055252	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055255	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055256	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055257	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055258	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055259	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055260	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055261	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055262	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055263	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055264	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055265	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055266	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055267	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055268	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055269	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis?	1	1	Michel van Geel
00055270	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis?	1	1	Michel van Geel
00055271	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00055272	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00055274	-	PubMed: Bahua 2002	4-generation family, 7 affecteds	-	no	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	7	Michel van Geel
00055275	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055276	-	PubMed: Brooks 2003	-	-	-	-	-	-	-	-	-	LPHDST	-	1	1	Michel van Geel
00055277	-	PubMed: Yildirim-Toruner 2004	3-generation family, 6 affecteds	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	6	Michel van Geel
00055278	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055279	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055280	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055281	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055282	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055283	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055284	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055285	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055286	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055287	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055288	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055289	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055291	-	-	-	-	-	-	-	-	-	-	-	?	oedema, prenatal, generalised	1	1	Michel van Geel
00055292	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055293	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055294	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055295	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055296	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055297	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055298	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055299	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema	1	1	Michel van Geel
00055300	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055301	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Michel van Geel
00055608	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphedema-distichiasis	1	1	Johan den Dunnen
00055609	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema-distichiasis	1	1	Johan den Dunnen
00055610	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055611	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055612	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055613	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055825	-	-	-	F	-	-	-	1d	-	-	-	?	alveolar capillary dysplasia, misalignment pulmonary veins (ACD/MPV); died from pulmonary insufficiency; gestation 28w; birth weight 1091g; respiratory ACD/MPV, pulmonary lymphangiectasia; patent ductus arteriosus; esophageal atresia, tracheo-esophageal fistula, abnormal placement anus; Single umbilical artery	1	1	Johan den Dunnen
00055826	-	-	-	M	-	-	-	?	-	-	-	?	elective termination pregnancy 22w; hypoplastic left heart syndrome; dilated renal pelvices	1	1	Johan den Dunnen
00055827	-	-	-	M	-	-	-	40d	-	-	-	?	alveolar capillary dysplasia, misalignment pulmonary veins (ACD/MPV); died from pulmonary insufficiency; elective C-section 38w; birth weight 2900g; respiratory ACD/MPV, persistent pulmonary hypertension, extracorporeal membrane oxygenation dependent (veno-veno); Tetralogy of Fallot, patent ductus arteriosus; duodenal atresia with annular pancreas, imperforate anus; bilateral hydronephrosis, mod right, severe left; Single umbilical artery	1	1	Johan den Dunnen
00055828	-	-	-	F	-	-	-	15d	-	-	-	?	alveolar capillary dysplasia, misalignment pulmonary veins (ACD/MPV); died from pulmonary insufficiency; elective C-section 37w; respiratory ACD/MPV, left pneumothorax, hypoxemia, surfactant therapy, extracorporeal membrane oxygenation; hypoplastic left heart syndrome; mild uretero-pelvic caliectasis; T11 butterfly vertebra; cleft lip, cleft palate, brachycephaly, single umbilical artery	1	1	Johan den Dunnen
00055829	-	-	-	M	-	-	-	18d	-	-	-	?	severe respiratory distress; died from pulmonary insufficiency; extracorporeal membrane oxygenation dependent; interrupted aortic arch, dilated pulmonary artery, large patent ductus arteriosus, decreased size left ventricle, pulmonary hypertension; bilateral renal pelviectasis; posterior rib fusions 10/11 (right side), 9/10 and 11/12 (left side)	1	1	Johan den Dunnen
00055830	-	-	-	F	-	-	-	25d	-	-	-	?	birth weight 3676g; respiratory ACD/MPV, persistent pulmonary hypertension, lung biopsy done; patent ductus arteriosus, ligated; ECG structurally normal heart; adhesions bowel loops, 2nd part duodenum, gallbladder, no malrotation at laparotomy	1	1	Johan den Dunnen
00055831	-	-	mother with umbilical hernia	F	-	-	-	>3y	-	-	-	?	spontaneous atrial septal defect closing; diastasis recti (14m-6 cm); dilated and tortuous ureters bilaterally with left hydronephrosis; CNS, ventriculomegaly, Chiari malformation and syrinx, meningeal cysts at T2-T3, developmental delay, o/e hypertelorism and broad forehead similar to mother, low-set ears, cafe-au-lait patch R buttock and L lower scapula, healing capillary hemangioma L buttock	1	2	Johan den Dunnen
00055934	-	-	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis, Pierre Robin sequence, lymphoedema, distichiasis	1	1	Christopher Gordon
00055935	-	PubMed: de Bruyn 2012	family, 7 affected	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis, hydrops fetalis and pulmonary lymphangiectasia	1	7	Johan den Dunnen
00055936	-	PubMed: Sutkowska 2012	family, 3 affected	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	3	Johan den Dunnen
00055937	-	PubMed: Ogura 2013	Family, 10 affecteds	-	-	Japan	-	-	-	-	-	LPHDST	lymphoedema distichiasis, SEDAC	1	10	Johan den Dunnen
00055938	-	PubMed: Ogura 2013	family, 3 affected	-	-	Japan	-	-	-	-	-	LPHDST	lymphoedema distichiasis, SEDAC	1	3	Johan den Dunnen
00055939	-	PubMed: Mendola 2013	Family-18	-	yes	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055940	-	PubMed: Mendola 2013	Family-19	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055941	-	PubMed: Mendola 2013	Family-20	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055942	-	PubMed: Mendola 2013	Family-21	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055943	-	PubMed: Mendola 2013	Family-22	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055944	-	PubMed: Mendola 2013	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055945	-	PubMed: Mendola 2013	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen
00055946	-	PubMed: Mendola 2013	-	-	-	-	-	-	-	-	-	LPHDST	lymphoedema distichiasis	1	1	Johan den Dunnen

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Global Variome shared LOVD

FOXC2 (forkhead box C2 (MFH-1, mesenchyme forkhead 1))