Disease #02038 (ACDMPV (dysplasia, capillary, alveolar, with misalignment of pulmonary veins (ACDMPV)), OMIM:265380)

Official abbreviation	ACDMPV
Name	dysplasia, capillary, alveolar, with misalignment of pulmonary veins (ACDMPV)
OMIM ID	265380
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	47
Phenotype entries for this disease	47
Associated with 1 gene	FOXF1
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

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

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

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

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

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

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

Treatment: treatment of patient

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

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

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47 entries on 1 page. Showing entries 1 - 47.

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
00250214	-	-	-	-	?	-	Asian	-	-	-	-	ACDMPV	posterior urethral valves	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250215	-	-	-	-	?	-	white	-	-	-	-	ACDMPV	complex; butterfly vertebra	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250216	-	-	-	F	-	-	-	1d	-	-	-	ACDMPV	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	FOXF1	FOXF1, FOXL1	2	1	LOVD
00250218	-	-	-	M	-	-	-	40d	-	-	-	ACDMPV	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	FOXF1	FOXF1, FOXL1	2	1	LOVD
00250219	-	-	-	F	-	-	-	15d	-	-	-	ACDMPV	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	FOXF1	FOXF1, FOXL1	2	1	LOVD
00250223	-	-	-	M	?	-	-	10d	-	-	-	ACDMPV	gestation 32w; birth weight 2470g; bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas and duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250224	-	-	-	M	?	-	-	00y00m00d12h	-	-	-	ACDMPV	gestation 32w; birth weight 2460g; obstructive renal dysplasia	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250225	-	-	-	F	?	-	-	1d	-	-	-	ACDMPV	gestation 35w; birth weight 2490g; partial anomalous pulmonary venous connection with absent left upper lobe pulmonary vein, malrotation of bowel, congenital short bowel, small omphalocele, bilateral severe hydronephrosis, hydroureter, bladder dilatation, micrognathia, low set ears	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250226	-	-	-	M	?	-	-	47d	-	-	-	ACDMPV	gestation 38w; birth weight 5057g; intestinal malrotation, Meckel's diverticulum	FOXF1	FOXF1	2	1	Avinash Dharmadhikari
00250227	-	-	-	F	?	-	Hispanic	-	-	-	-	ACDMPV	Malrotation of intestine, imperforate anus, butterfly vertebra	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250228	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Incomplete rotation of bowel, high arched palate, hypocalvaria, incomplete lung lobation	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250229	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Malrotation of the intestine, hydronephrosis, bilateral hydroureter, enlarged and thick bladder	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250230	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	None	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250231	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Abnormal lung lobation, malrotation of the intestine, duodenal atresia	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250232	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Hyaline membrane disease, patent ductus arteriosus, multiple intestinal atresias, imperforate anus, undescended testis, Hirschprung disease	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250233	-	-	-	M	?	-	Hispanic	-	-	-	-	ACDMPV	none identified	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250234	-	-	-	-	?	-	white	-	-	-	-	ACDMPV	duodenal and anal atresia, malrotation of the large intestine and gallbladder agenesis	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250235	-	-	-	?	?	-	white	-	-	-	-	ACDMPV	Atrial septal defect, polyhydramnios	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250236	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	Intestinal malrotation	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250237	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	Bilobed right lung	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250238	-	-	-	?	no	-	white	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250239	-	-	-	?	?	-	unknown	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250240	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Hydronephrosis, partial stenosis at transition to colon transversum	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250241	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Malrotation of the intestine, atrial septal defect, thickened distended bladder with muscular hypertrophy	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250242	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	Meckels divurticulum, moderate acute cortical involution of thymus	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250243	-	-	-	M	?	-	Asian/white	-	-	-	-	ACDMPV	Bilobed right lung, partial atrio-ventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas, duodenal stenosis, bilateral hydronephrosis, hydroureter, dilatation of urinary bladder	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250244	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	none identified	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250245	-	-	-	?	no	-	white	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250246	-	-	-	F	?	-	African American	-	-	-	-	ACDMPV	none identified	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250247	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Megaduodenum, pyloric stenosis, annular pancreas	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250248	-	-	-	-	?	-	African American	-	-	-	-	ACDMPV	Atrial septal defects	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250249	-	-	-	M	no	-	white	-	-	-	-	ACDMPV	Uretral stenosis, megavesica, severe hydronephrosis	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250250	-	-	-	F	no	-	white	-	-	-	-	ACDMPV	Isolated arhinencephaly	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250251	-	-	-	M	no	-	white	-	-	-	-	ACDMPV	Severe obstructive uropathy	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250252	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	Duodenal stenosis, annular pancreas, malrotation of large intestine	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250253	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250254	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	Duodenal atresia, polysplenia, annular pancreas and left hydronephrosis	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250255	-	-	-	?	?	-	unknown	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250256	-	-	-	M	?	-	Asian	-	-	-	-	ACDMPV	None	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250257	-	-	-	?	?	-	unknown	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250258	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	Mild aortic coarctation, Meckel's diverticulum	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250259	-	-	-	M	?	-	white	-	-	-	-	ACDMPV	none identified	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250260	-	-	-	F	?	-	Hispanic	-	-	-	-	ACDMPV	Bilateral incomplete lobation of lungs, Lymphangiectasis	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250261	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	No lung lobation	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250263	-	-	-	M	?	-	Hispanic	-	-	-	-	ACDMPV	none identified	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250264	-	-	-	?	?	-	unknown	-	-	-	-	ACDMPV	unknown	FOXF1	FOXF1	1	1	Avinash Dharmadhikari
00250265	-	-	-	F	?	-	white	-	-	-	-	ACDMPV	Atrial septal defect	FOXF1	FOXF1	1	1	Avinash Dharmadhikari

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Global Variome shared LOVD

P2RX7 (purinergic receptor P2X, ligand-gated ion ch...)