Disease #06892 (NPHP (nephronophthisis))

Official abbreviation	NPHP
Name	nephronophthisis
OMIM ID	-
Inheritance	-
Individuals reported having this disease	64
Phenotype entries for this disease	3
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2022-01-23 12:29:57 +01:00 (CET)
Date last edited	N/A

Individuals

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.

64 entries on 1 page. Showing entries 1 - 64.

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
00399793	1009	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	ANKS6	2	1	Johan den Dunnen
00399794	982	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	BBS1	2	1	Johan den Dunnen
00399795	368	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	BBS12	2	1	Johan den Dunnen
00399796	655	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	BBS12	2	1	Johan den Dunnen
00399797	341	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	BBS2	2	1	Johan den Dunnen
00399798	1031	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	IFT140	2	1	Johan den Dunnen
00399799	657	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	INVS	2	1	Johan den Dunnen
00399800	885	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	INVS	2	1	Johan den Dunnen
00399801	330	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399802	823	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	1	1	Johan den Dunnen
00399803	723	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399804	1030	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399805	835	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399806	516	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399807	1006	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399808	1007	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399809	1013	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399810	1017	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399811	1029	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399812	1023	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399813	884	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399814	1008	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399815	1015	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP3	2	1	Johan den Dunnen
00399816	1022	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP4	2	1	Johan den Dunnen
00399817	1019	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP4	2	1	Johan den Dunnen
00399818	904	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	RPGRIP1L	2	1	Johan den Dunnen
00399819	597	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	RPGRIP1L	1	1	Johan den Dunnen
00399820	625	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	SDCCAG8	1	1	Johan den Dunnen
00399821	1014	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	TMEM67	2	1	Johan den Dunnen
00399822	1026	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	TTC21B	2	1	Johan den Dunnen
00399823	1016	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	TTC21B	2	1	Johan den Dunnen
00399824	882	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	TTC21B	2	1	Johan den Dunnen
00399825	1002	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	TTC21B	2	1	Johan den Dunnen
00399826	1011	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	TTC21B	2	1	Johan den Dunnen
00399827	857	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	WDR19	2	1	Johan den Dunnen
00399828	1004	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	WDR19	1	1	Johan den Dunnen
00399829	1025	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	WDR19	1	1	Johan den Dunnen
00399830	611	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	WDR19	2	1	Johan den Dunnen
00399831	415	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	WDR19	2	1	Johan den Dunnen
00399832	369	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	ZNF423	1	1	Johan den Dunnen
00399833	806	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399834	837	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399835	1005	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399836	899	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399837	458	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399838	652	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399839	877	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399840	1003	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399841	1010	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399842	911	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399843	909	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	2	1	Johan den Dunnen
00399844	612	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399845	602	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399846	1012	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399847	1018	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399848	1020	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399849	1021	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399850	1024	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399851	1027	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00399852	1028	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	-	NPHP1	1	1	Johan den Dunnen
00403762	family	PubMed: Larrue 2020	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	France	-	-	-	-	-	NPHP	see paper; ...	NPHP3	NPHP3	2	1	Johan den Dunnen
00413401	IV:1	-	-	M	yes	Saudi Arabia	Arab	00y06m	-	-	-	NPHP	-	NPHP1, NPHP3, NPHP3-ACAD11, NPHP3-AS1, NPHP4, NPHS1, NPHS2	NPHP3	1	1	Sulman Basit
00465250	FamPatIV1	PubMed: Karam 2024, Journal: Karam 2024	4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives	M	yes	Iran	-	-	-	-	-	NPHP	see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension	-	NPHP4	1	2	Johan den Dunnen
00465251	FamPatIV2	PubMed: Karam 2024, Journal: Karam 2024	sister	F	yes	Iran	-	-	-	-	-	NPHP	see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension	NPHP4	NPHP4	1	1	Johan den Dunnen

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