Disease #05562 (SPGF (spermatogenic failure (SPGF)))

Official abbreviation	SPGF
Name	spermatogenic failure (SPGF)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	96
Phenotype entries for this disease	94
Associated with 26 genes	ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DNAH2, DNALI1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, 6 more...ACRC, AURKC, C14orf39, C15orf43, CCDC62, CFAP58, DNAH1, DNAH2, DNALI1, DPY19L2, FANCM, FBXO43, GGN, IFT74, MEIOB, PDHA2, PLCZ1, PNLDC1, RNF212, RPL10L, SOHLH1, SPATA22, STAG3, TDRD9, TEX11, ZPBP
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-02-13 22:06:30 +01:00 (CET)
Date last edited	N/A

Individuals

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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

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
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^	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'
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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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96 entries on 1 page. Showing entries 1 - 96.

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
00222959	30686508-Pat1	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	Tunisia	-	-	-	-	-	SPGF	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	ARMC2	ARMC2	1	1	Johan den Dunnen
00222960	30686508-Pat2	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	Tunisia	-	-	-	-	-	SPGF	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	ARMC2	ARMC2	1	1	Johan den Dunnen
00222961	30686508-Pat3	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	Tunisia	-	-	-	-	-	SPGF	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	ARMC2	ARMC2	1	1	Johan den Dunnen
00222962	30686508-Pat4	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	Tunisia	-	-	-	-	-	SPGF	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	ARMC2	ARMC2	1	1	Johan den Dunnen
00222963	30686508-FamPatIV2	PubMed: Coutton 2019, Journal: Coutton 2019	5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	ARMC2	ARMC2	1	1	Johan den Dunnen
00225378	29449551-PatCFAP43-1	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225379	29449551-PatCFAP43-2	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225380	29449551-PatCFAP43-3	PubMed: Coutton 2018	-	M	-	-	Afghanistan	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225381	29449551-PatCFAP43-4	PubMed: Coutton 2018	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225382	29449551-PatCFAP43-5	PubMed: Coutton 2018	-	M	-	-	Algeria	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225383	29449551-PatCFAP43-6	PubMed: Coutton 2018	-	M	-	-	Algeria	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225384	29449551-PatCFAP43-7	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225385	29449551-PatCFAP43-8	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225386	29449551-PatCFAP43-9	PubMed: Coutton 2018	-	M	-	-	France	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	2	1	Johan den Dunnen
00225387	29449551-PatCFAP43-10	PubMed: Coutton 2018	-	M	-	-	Turkey	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225388	30686508-PatCFAP43-11	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	1	1	Johan den Dunnen
00225389	30686508-PatCFAP43-12	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR96	WDR96	2	1	Johan den Dunnen
00225390	29449551-PatCFAP44-1	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225391	29449551-PatCFAP44-2	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225392	29449551-PatCFAP44-3	PubMed: Coutton 2018	-	M	-	-	Morocco	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225393	29449551-PatCFAP44-4	PubMed: Coutton 2018	-	M	-	-	Algeria	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225394	29449551-PatCFAP44-5	PubMed: Coutton 2018	-	M	-	-	Algeria	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225395	30686508-PatCFAP44-7	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Algeria	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225396	29449551-PatCFAP44-6	PubMed: Coutton 2018	-	M	-	-	Algeria	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225397	30686508-PatCFAP44-8	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR52	WDR52	1	1	Johan den Dunnen
00225398	29449551-PatDNAH1-1	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225399	29449551-PatDNAH1-2	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225400	29449551-PatDNAH1-3	PubMed: Coutton 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225401	29449551-PatDNAH1-4	PubMed: Coutton 2018	-	M	-	-	Portugal	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	2	1	Johan den Dunnen
00225402	30686508-PatDNAH1-5	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	France	-	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225403	30686508-PatDNAH1-6	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225404	30686508-PatDNAH1-7	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225405	30686508-PatDNAH1-8	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225406	30686508-PatDNAH1-9	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225407	30686508-PatDNAH1-10	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	DNAH1	DNAH1	1	1	Johan den Dunnen
00225408	30122540-PatWDR66-1	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225409	30122540-PatWDR66-2	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225410	30122540-PatWDR66-3	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225411	30122540-PatWDR66-4	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225412	30122540-PatWDR66-5	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225413	30122540-PatWDR66-6	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225414	30122540-PatWDR66-7	PubMed: Kherraf 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225415	30686508-PatWDR66-8	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225416	30686508-PatWDR66-9	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225417	30686508-PatWDR66-10	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225418	30686508-PatWDR66-11	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	WDR66	WDR66	1	1	Johan den Dunnen
00225419	29606301-PatCFAP69-1	PubMed: Dong 2018	-	M	-	-	Iran	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	C7orf63	C7orf63	1	1	Johan den Dunnen
00225420	29606301-PatCFAP69-2	PubMed: Dong 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	C7orf63	C7orf63	1	1	Johan den Dunnen
00225421	30137358-PatFSIP-1	PubMed: Martinez 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225422	30137358-PatFSIP-2	PubMed: Martinez 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225423	30137358-PatFSIP-3	PubMed: Martinez 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225424	30137358-PatFSIP-4	PubMed: Martinez 2018	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225425	30686508-PatFSIP-5	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225426	30686508-PatFSIP-6	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225427	30686508-PatFSIP-7	PubMed: Coutton 2019, Journal: Coutton 2019	-	M	-	-	Tunisia	-	-	-	-	SPGF	male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)	FSIP2	FSIP2	1	1	Johan den Dunnen
00225428	29449551-DNAH1-5	PubMed: Coutton 2018	-	M	-	-	-	-	-	-	-	SPGF	-	DNAH1	DNAH1	2	1	Johan den Dunnen
00225505	29659827-Fam	PubMed: Ben Khelifa 2018	4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Tunisia	-	-	-	-	-	SPGF	non-obstructive azoospermia, meiotic arrest.	MEI1	MEI1	1	3	Johan den Dunnen
00227900	patient	PubMed: Bashamboo 2010	-	-	-	-	-	-	-	-	-	SPGF	see paper; …	NR5A1	NR5A1	1	1	Johan den Dunnen
00227901	patient	PubMed: Bashamboo 2010	-	-	-	-	-	-	-	-	-	SPGF	see paper; …	NR5A1	NR5A1	1	1	Johan den Dunnen
00227902	patient	PubMed: Bashamboo 2010	-	-	-	-	-	-	-	-	-	SPGF	see paper; …	NR5A1	NR5A1	1	1	Johan den Dunnen
00227903	patient	PubMed: Bashamboo 2010	-	-	-	-	-	-	-	-	-	SPGF	see paper; …	NR5A1	NR5A1	1	1	Johan den Dunnen
00260880	FamPat1/2	PubMed: Kasak 2009	3-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	-	Estonia	-	-	-	-	-	SPGF	see paper; …	FANCM	CEP19, CEP57, FANCM	4	2	Johan den Dunnen
00260881	Pat3	PubMed: Kasak 2009	-	M	-	Estonia	-	-	-	-	-	SPGF	see paper; …	FANCM	FANCM	1	1	Johan den Dunnen
00260882	Pat4	PubMed: Kasak 2009	-	M	-	Portugal	-	-	-	-	-	SPGF	see paper; …	FANCM	FANCM	1	1	Johan den Dunnen
00260884	-	PubMed: Yin 2019	family, 3 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	SPGF	see paper; ..., infertility due to oligoasthenospermia or azoospermia	FANCM	FANCM	1	3	Johan den Dunnen
00264159	Fam	PubMed: Escoffier 2016	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents (first-cousin)/relatives	M	yes	Tunisia	-	-	-	-	-	SPGF	see paper; ..., infertile due to failure of oocyte activation, Western Blot no PLCZ1	PLCZ1	C20orf201, EPS8, PLCZ1	4	1	Johan den Dunnen
00269842	FamA002	PubMed: Liu 2019	4-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00269843	FamA038	PubMed: Liu 2019	4-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00269844	FamS003	PubMed: Liu 2019	2-generation family, 1 affected (M), unaffected heterozygous carrier parents	M	no	China	-	-	-	-	-	SPGF	-	TTC29	TTC29	2	1	Johan den Dunnen
00269845	Pat1	PubMed: Lores 2019	-	M	-	-	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00269846	Pat2	PubMed: Lores 2019	-	M	-	-	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00269847	Pat3	PubMed: Lores 2019	-	M	-	-	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00269848	Pat4	PubMed: Lores 2019	-	M	-	-	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00269849	Pat5	PubMed: Lores 2019	-	M	-	-	-	-	-	-	-	SPGF	-	TTC29	TTC29	1	1	Johan den Dunnen
00403110	FamA	PubMed: Gershoni 2017	2-generation family, 4 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Israel	Muslim;Arab	-	-	-	-	SPGF	see paper; ...	-	MEIOB	1	4	Johan den Dunnen
00403111	FamB	PubMed: Gershoni 2017	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Israel	Jewish;Iraq	-	-	-	-	SPGF	see paper; ...	-	GALNTL5, TEX14	2	2	Johan den Dunnen
00403112	FamC	PubMed: Gershoni 2017	3-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives	M	yes	Israel	Muslim;Arab	-	-	-	-	SPGF	see paper; ...	-	DNAH6	1	4	Johan den Dunnen
00403113	family	PubMed: Arafat 2017	5-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives	M	yes	Israel	Bedouin	-	-	-	-	SPGF	see paper; ...	TDRD9	TDRD9	1	5	Johan den Dunnen
00408161	FamA050PatIV-1	PubMed: He 2020	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., asthenoteratozoospermia	-	CFAP58	1	1	Johan den Dunnen
00408162	FamA064PatII-1	PubMed: He 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	China	-	-	-	-	-	SPGF	see paper; ..., asthenoteratozoospermia	-	CFAP58	2	1	Johan den Dunnen
00408163	FamN010PatIV-1	PubMed: He 2020	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., asthenoteratozoospermia	-	CFAP58	1	1	Johan den Dunnen
00408164	FamN011PatIV-1	PubMed: He 2020	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., asthenoteratozoospermia	-	CFAP58	1	1	Johan den Dunnen
00408165	FamN015PatII-1	PubMed: He 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	-	China	-	-	-	-	-	SPGF	see paper; ..., asthenoteratozoospermia	-	CFAP58	1	1	Johan den Dunnen
00413321	-	-	-	-	-	China	-	-	-	-	-	SPGF	-	SEPT4	SEPT4	1	1	Rui Guo
00413420	-	-	-	-	-	China	-	-	-	-	-	SPGF	-	SEPT4	SEPT4	1	1	Rui Guo
00414835	Pat1	PubMed: Dai 2020	3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., nonglobozoospermic	-	PLCZ1	1	1	Johan den Dunnen
00414836	Pat2	PubMed: Dai 2020	3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., nonglobozoospermic	-	PLCZ1	1	1	Johan den Dunnen
00414837	Pat3	PubMed: Dai 2020	2 generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	China	-	-	-	-	-	SPGF	see paper; ..., nonglobozoospermic	-	PLCZ1	1	2	Johan den Dunnen
00415986	Pat1	PubMed: Yatsenko 2015, Journal: Yatsenko 2015, PubMed: Riera-Escamilla 2022, Journal: Riera-Escamilla 2022	-	M	-	-	white;Europe	-	-	-	-	SPGF	azoospermia, meiotic arrest, mixed testicular atrophy	TEX11	TEX11	1	1	Johan den Dunnen
00415987	Pat2	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	-	white;Europe	-	-	-	-	SPGF	azoospermia, meiotic arrest	TEX11	TEX11	1	1	Johan den Dunnen
00415988	Pat3	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	-	white;Europe	-	-	-	-	SPGF	azoospermia, meiotic arrest	TEX11	TEX11	1	1	Johan den Dunnen
00415989	Pat4	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	Germany	white	-	-	-	-	SPGF	azoospermia, meiotic arrest	TEX11	TEX11	1	1	Johan den Dunnen
00415990	Pat5	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	Germany	Arab	-	-	-	-	SPGF	azoospermia, meiotic arrest	TEX11	TEX11	1	1	Johan den Dunnen
00415991	Pat6	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	Germany	white	-	-	-	-	SPGF	azoospermia, meiotic arrest, mixed testicular atrophy	TEX11	TEX11	1	1	Johan den Dunnen
00415992	Pat7	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	Germany	black	-	-	-	-	SPGF	azoospermia, partial meiotic arrest	TEX11	-	1	1	Johan den Dunnen
00418365	Pat7	PubMed: Yatsenko 2015, Journal: Yatsenko 2015	-	M	-	Germany	black	-	-	-	-	SPGF	see paper; ..., few sperm	TEX11	TEX11	1	1	Johan den Dunnen

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