All individuals with variants in gene PLS3

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.

50 entries on 1 page. Showing entries 1 - 50.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	3	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00173334	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	7	Lucy Raymond
00173335	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	7	Lucy Raymond
00173336	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173337	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173338	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00183310	ASHG2018-P1260-Fam1	Petit ASHG2018 P1260	3-generation family, 10 affected (10M)	M	-	France	-	-	-	-	-	DIH	-	1	10	Johan den Dunnen
00183311	ASHG2018-P1260-Fam2	Petit ASHG2018 P1260	family, 2 affected (2M)	M	-	-	-	-	-	-	-	DIH	-	1	2	Johan den Dunnen
00183312	ASHG2018-P1260-Fam3	Petit ASHG2018 P1260	family, 3 affected (3M)	M	-	-	-	-	-	-	-	DIH	-	1	3	Johan den Dunnen
00372601	P1	PubMed: Fahiminiya 2014	patient has a younger brother who harbours the same PLS3 variant	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372610	-	PubMed: Laine 2015	-	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372611	Family 1	PubMed: van Dijk 2013	A report of a boy from this family was subsequently reported by {PMID27477003:van de Laarschot and Zillikens, 2017}	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372612	IV-1	PubMed: Chen 2018	-	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372613	Family 3	PubMed: van Dijk 2013	-	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372614	Family 4	PubMed: van Dijk 2013	-	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372615	P4	PubMed: Cao 2019	The authors were contacted for further clarification of the OI type but they were unable to give a specific OI type.	-	-	China	-	-	-	-	-	OI	-	1	1	Raymond Dalgleish
00372616	-	PubMed: Lv 2017	The patient is male and his mother is presumed to be a carrier for the deletion. She has osteopaenia, but no bone fractures.	-	-	China	Han	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372618	-	PubMed: Constantini 2018	The proband's mother does not harbour the variant.	-	-	Greece	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372619	Patient 2	PubMed: Nishi 2016	Patient 3 is the brother of patient 2.	-	-	Finland	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372620	P3 (Family 2)	PubMed: Fahiminiya 2014	The patient's dizygotic twin brother also harbours the same variant.	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372621	Family 2	PubMed: van Dijk 2013	-	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00372622	Family 5	PubMed: van Dijk 2013	-	-	-	-	-	-	-	-	-	osteoporosis	-	1	1	Raymond Dalgleish
00431416	Pat1	PubMed: Hu 2020	-	M	?	China	-	>12y	-	-	-	OI	-	1	2	Kim Worring
00431417	Pat2	PubMed: Hu 2020	-	M	?	China	-	>06y	-	-	-	OI	-	1	1	Kim Worring
00431831	Pat1	PubMed: Brlek 2021	-	M	no	Croatia (Hrvatska)	-	>16y	-	-	-	OI	Fractures, white sclerae, subluxations	1	1	Kim Worring
00436744	Fam1PatIII1	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436745	Fam1PatIII2	PubMed: Petit 2023, Journal: Petit 2023	relative	M	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features; high bone densitometry, genu valgum	1	1	Johan den Dunnen
00436746	Fam1PatIII4	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436748	Fam1PatIII10	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436749	Fam1PatIV3	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436750	Fam1PatIV4	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436751	Fam1PatIV12	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; supraumbilical abdominal hernia; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436753	Fam1PatIV15	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436754	Fam1PatIV16	PubMed: Petit 2023, Journal: Petit 2023	relative	M	-	France	-	-	-	-	-	DIH	see paper; ..., deceased; diaphragm agenesis; no body-wall defect; neonatal seizures; bilateral renal pelvis dilation	1	1	Johan den Dunnen
00436755	Fam1PatIV34	PubMed: Petit 2023, Journal: Petit 2023	relative	F	-	France	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; hypertelorism; no neurodevelopmental features	1	1	Johan den Dunnen
00436758	Fam1PatV2	PubMed: Petit 2023, Journal: Petit 2023	relative	M	-	France	-	-	-	-	-	DIH	see paper; ..., deceased; left diaphragm agenesis; no body-wall defect; hypertelorism; hypotonia; left lung segmentation defect, bicuspid aortic valve, two choroid cysts	1	1	Johan den Dunnen
00436759	Fam1PatV6	PubMed: Petit 2023, Journal: Petit 2023	relative (fetus)	M	-	France	-	-	-	-	-	DIH	see paper; ..., deceased (termination of pregnancy); left diaphragm agenesis; cystic hygroma, left lung segmentation defect	1	1	Johan den Dunnen
00436760	Fam2PatI2	PubMed: Petit 2023, Journal: Petit 2023	2-generation family, affected mother/2 sons	F	-	United States	-	-	-	-	-	DIH	see paper; ..., alive; no diaphragm defect type; umbilical hernia; no dysmorphic features; no neurodevelopmental features	1	3	Johan den Dunnen
00436761	Fam2PatII1	PubMed: Petit 2023, Journal: Petit 2023	son	M	-	United States	-	-	-	-	-	DIH	see paper; ..., deceased; left posterolateral congenital diaphragmatic hernia; supraumbilical abdominal muscle deficiency, cleft sternum; hypoplasia of corpus callosum	1	1	Johan den Dunnen
00436762	Fam2PatII2	PubMed: Petit 2023, Journal: Petit 2023	son	M	-	United States	-	-	-	-	-	DIH	see paper; ..., deceased; left diaphragm agenesis; supraumbilical abdominal muscle deficiency	1	1	Johan den Dunnen
00436763	Fam3PatIII3	PubMed: Petit 2023, Journal: Petit 2023	4-generation family, 6 affected (3F, 3M)	M	-	United States	-	-	-	-	-	DIH	see paper; ..., alive; left posterolateral congenital diaphragmatic hernia; no body-wall defect; no dysmorphic features	1	6	Johan den Dunnen
00436764	Fam3PatIV1	PubMed: Petit 2023, Journal: Petit 2023	relative	M	-	United States	-	-	-	-	-	DIH	see paper; ..., deceased; no body-wall defect; left posterolateral congenital diaphragmatic hernia	1	1	Johan den Dunnen
00436765	Fam3PatIV2	PubMed: Petit 2023, Journal: Petit 2023	relative	M	-	United States	-	-	-	-	-	DIH	see paper; ..., alive; left posterolateral congenital diaphragmatic hernia; no body-wall defect; no dysmorphic features; hydronephrosis with ureteral abnormality	1	1	Johan den Dunnen
00436768	Fam4PatIII3	PubMed: Petit 2023, Journal: Petit 2023	relative	M	-	United States	-	-	-	-	-	DIH	see paper; ..., alive; congenital diaphragmatic hernia (unspecified); no neurodevelopmental features	1	1	Johan den Dunnen
00436769	Fam5PatII1	PubMed: Petit 2023, Journal: Petit 2023	2-generation family, 1 affected, unaffected carrier mother	M	-	United States	-	-	-	-	-	DIH	see paper; ..., alive; right congenital diaphragmatic hernia; absence of right-sided internal oblique and transversus abdominis muscles; no dysmorphic features; no neurodevelopmental features	1	1	Johan den Dunnen
00436770	Fam6PatII1	PubMed: Petit 2023, Journal: Petit 2023	2-generation family, 1 affected, unaffected carrier mother	M	-	United States	-	-	-	-	-	DIH	see paper; ..., alive; diaphragm eventration; no body-wall defect; no dysmorphic features; no neurodevelopmental features	1	1	Johan den Dunnen
00436771	Fam7PatII2	PubMed: Petit 2023, Journal: Petit 2023	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	Hispanic	-	-	-	-	DIH	see paper; ..., alive; bilateral ventral CDH with hernia sacs; epigastric skin-covered abdominal-wall defect; hypertelorism, prominent forehead, broad flattened nasal bridge, downslanting palpebral fissures, low-set ears, micrognathia, anteverted nares; no neurodevelopmental features; membranous ventricular septal defect, atrial septal defect, hydronephrosis, unilateral cryptorchidism, unilateral inguinal hernia	1	1	Johan den Dunnen
00436774	Fam8PatII5	PubMed: Petit 2023, Journal: Petit 2023	son (half-brother)	M	-	United States	white	-	-	-	-	DIH	see paper; ..., alive; left congenital diaphragmatic hernia with hernia sac; no body-wall defect; hypertelorism, low-set right ear, short nose with wide nasal root, downslanting palpebral fissures, widely spaced teeth, high arched palate; intermittent horizontal nystagmus, dilation of lateral ventricles, speech delay, intellectual disability, autism, complex partial seizures; corneal pannus, sensory neural hearing loss, malocclusion, two-vessel umbilical cord	1	1	Johan den Dunnen
00466840	Pat127	PubMed: Tuysuz 2022	-	-	-	Turkey	-	-	-	-	-	OI	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

PLS3 (plastin 3)