All individuals with variants in gene CCDC39

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.

52 entries on 1 page. Showing entries 1 - 52.

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
00000215	PCD31	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD14	-	1	1	Hannah Mitchison
00000216	PCD22	PubMed: Antony 2013	2-generation family, 3 affected (2 sister/brother), unaffected heterozygous carrier parents/relatives	F;M	-	Germany	-	-	-	-	-	CILD14	-	2	3	Hannah Mitchison
00000217	PCD113	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD14	-	1	1	Hannah Mitchison
00000218	PCD102	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD14	-	2	1	Hannah Mitchison
00000219	PCD186	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	F	-	Zimbabwe	-	-	-	-	-	CILD14	-	2	1	Hannah Mitchison
00000220	PCD206	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD14	-	2	1	Hannah Mitchison
00000221	PCD210	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Afghanistan	Pubjabi	-	-	-	-	CILD14	-	1	1	Hannah Mitchison
00000222	PCD211	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	F	-	Portugal	-	-	-	-	-	CILD14	-	2	1	Hannah Mitchison
00000223	UNC64	PubMed: Antony 2013	-	-	-	United States	-	-	-	-	-	CILD14	-	1	1	Hannah Mitchison
00183321	16GM00067	-	-	-	-	-	Tunisian	-	-	-	-	CILD	-	1	1	Rahma MANI
00293282	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	76	Mohammed Faruq
00293283	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	64	Mohammed Faruq
00293284	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00293285	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00304939	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00304940	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00462318	Pat3	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	32wg-birth prematurity, persistent atelectasis	2	1	Johan den Dunnen
00462319	Pat4	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems; family, 2 affected cousins	-	-	United Arab Emirates	-	-	-	-	-	CILD	primary ciliary dyskinesia	1	2	Johan den Dunnen
00462320	Pat5	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	primary ciliary dyskinesia	2	1	Johan den Dunnen
00462336	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462337	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462338	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462339	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462340	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462341	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462417	DCP85	PubMed: Merveille 2011	4-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Algeria	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; no sperm defects	1	1	Johan den Dunnen
00462418	DCP91	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	France	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; no sperm defects	1	1	Johan den Dunnen
00462419	Fam1PatDCP413	PubMed: Merveille 2011	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	yes	France	Africa-N	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome)	1	1	Johan den Dunnen
00462420	Fam1PatDCP414	PubMed: Merveille 2011	brother	M	yes	France	Africa-N	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome)	1	1	Johan den Dunnen
00462421	DCP532	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	M	no	Tunisia	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome)	1	1	Johan den Dunnen
00462422	DCP554	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	M	no	Algeria	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; oligoasthenospermia	1	1	Johan den Dunnen
00462423	DCP384	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	F	yes	France	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; no sperm defects	1	1	Johan den Dunnen
00462424	OP122	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	M	no	Germany	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Ivemark syndrome); oligoasthenospermia	2	1	Johan den Dunnen
00462425	Fam2PatDCP552	PubMed: Merveille 2011	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	Turkey	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome)	1	1	Johan den Dunnen
00462426	Fam2PatDCP553	PubMed: Merveille 2011	brother	M	no	Turkey	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Ivemark syndrome)	1	1	Johan den Dunnen
00462427	DCP274	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	M	no	France	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome)	2	1	Johan den Dunnen
00462428	OP736PatII1	PubMed: Merveille 2011	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	no	Denmark	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; no sperm defects	2	1	Johan den Dunnen
00462429	OP736PatII2	PubMed: Merveille 2011	brother	M	no	Germany	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; no sperm defects	2	1	Johan den Dunnen
00462430	DCP158	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	France	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus	2	1	Johan den Dunnen
00462431	DCP580	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	M	no	Senegal	West Indies	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome); oligoasthenospermia	2	1	Johan den Dunnen
00462432	DCP533	PubMed: Merveille 2011	4-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Tunisia	-	-	-	-	-	CILD	primary ciliary dyskinesia; heterotaxia; no sperm defects	1	1	Johan den Dunnen
00462433	DCP528	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Egypt	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects	1	1	Johan den Dunnen
00462434	DCP323	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	F	no	France	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects	1	1	Johan den Dunnen
00462435	DCP181	PubMed: Merveille 2011	4-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Algeria	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; no sperm defects	1	1	Johan den Dunnen
00462436	OP18PatII1	PubMed: Merveille 2011	4-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects	1	1	Johan den Dunnen
00462437	OI5PatII1	PubMed: Merveille 2011	4-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Israel	-	-	-	-	-	CILD	primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects	1	1	Johan den Dunnen
00462438	DCP481	PubMed: Merveille 2011	2-generation family, 1 affected, unaffected parents	M	no	Algeria	-	-	-	-	-	CILD	primary ciliary dyskinesia; no situs inversus; oligoasthenospermia	3	1	Johan den Dunnen
00462439	-	PubMed: Merveille 2011	-	-	-	-	-	-	-	-	-	CILD	primary ciliary dyskinesia	1	1	Johan den Dunnen
00462440	-	PubMed: Merveille 2011	-	-	-	-	-	-	-	-	-	CILD	primary ciliary dyskinesia	1	1	Johan den Dunnen
00464632	2244_Case3	-	-	F	yes	Egypt	-	-	-	-	-	INFF	-	1	1	Rima Slim
00464633	2261_Case3	-	Severe oligospermia	M	yes	Egypt	-	-	-	-	-	INF	Male infertility (HP:0003251)	1	1	Rima Slim
00468270	GMKF_9	PubMed: Rai 2025	-	F	-	United States	non-Hispanic;white	-	-	-	-	?	see paper; ..., tricuspid atresia, VS?, dextro-transposition great arteries, CoA, LV, dextrocardia; atrial situs solitus; left ventricular situs; right arterial situs; complex tricuspid atresia	1	1	Johan den Dunnen

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Global Variome shared LOVD

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