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.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00000014 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
autism, BMD/DMD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00000024 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
BMD/DMD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00000039 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ADPKD |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00000041 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00000042 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00000049 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00000075 |
- |
PubMed: Bell 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00001821 |
- |
- |
- |
- |
- |
(United States) |
- |
- |
- |
- |
- |
RP |
- |
2 |
1 |
Feng Wang |
00033170 |
- |
- |
- |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
retinal degeneration, severe, early onset (EOSRD) |
2 |
1 |
Kornelia Neveling |
00081376 |
- |
Kay, submitted EJHG |
- |
- |
- |
Peru |
- |
- |
- |
- |
- |
HD |
- |
1 |
1 |
Chris Kay |
00081379 |
- |
Kay, submitted EJHG |
- |
- |
- |
Peru |
- |
- |
- |
- |
- |
HD |
- |
1 |
1 |
Chris Kay |
00155506 |
- |
Sharon, submitted |
- |
M |
no |
Israel |
Yemenite;Jewish |
- |
- |
- |
- |
SLSN |
- |
1 |
1 |
Dror Sharon |
00289404 |
Pat22 |
PubMed: Barbosa 2020 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
NDD |
first smile 21m; sit not achieved, walk not achieved; no speech; severe learning difficulties; language delay no language development; language delay; OFC -4.6 SD |
1 |
1 |
Johan den Dunnen |
00302699 |
P23 |
PubMed: Al Alawi 2019, Journal: Al Alawi 2019 |
- |
M |
yes |
Oman |
- |
- |
- |
- |
- |
PKD |
- |
1 |
1 |
Intisar Al Alawi |
00302712 |
P40 |
PubMed: Al Alawi 2019, Journal: Al Alawi 2019 |
- |
M |
yes |
Oman |
- |
- |
- |
- |
- |
PKD |
- |
1 |
1 |
Intisar Al Alawi |
00309245 |
- |
PubMed: Sharon 2019 |
1 IRD family |
- |
- |
Israel |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
Global Variome, with Curator vacancy |
00328507 |
15001053 |
PubMed: Taylor 2017 |
no family history retinal disease |
F |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
retinal disease |
retinal dystrophy (HP:0000556), nephronophthisis (HP:0000090) |
2 |
1 |
LOVD |
00335979 |
- |
PubMed: Sergouniotis 2016 |
analysis 486 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00358977 |
Case25939 |
PubMed: Tiwari 2016 |
see paper |
M |
- |
Switzerland |
- |
- |
- |
- |
- |
retinal disease |
see paper; ... |
1 |
1 |
LOVD |
00373849 |
Rp131 |
PubMed: Zhao 2015 |
simplex case |
- |
- |
Northern Ireland |
- |
- |
- |
- |
- |
retinal disease |
see paper; ... |
2 |
1 |
LOVD |
00375426 |
RP#020 |
PubMed: Katagiri 2014 |
family |
- |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
see paper; ... |
1 |
1 |
LOVD |
00377748 |
- |
PubMed: Otto 2011 |
heterozygous mutation identified in father |
- |
- |
Germany |
- |
- |
- |
- |
- |
retinal disease |
- |
2 |
1 |
LOVD |
00377749 |
- |
PubMed: Otto 2011 |
- |
- |
- |
Belgium |
- |
- |
- |
- |
- |
retinal disease |
- |
2 |
1 |
LOVD |
00377779 |
- |
PubMed: Otto 2011 |
- |
- |
no |
Germany |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00377780 |
- |
PubMed: Otto 2011 |
- |
- |
yes |
- |
Arab |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00377915 |
- |
PubMed: Chaki 2011 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
mental retardation. |
1 |
1 |
LOVD |
00380138 |
13DG0528 |
PubMed: Patel 2018 |
- |
- |
yes |
Saudi Arabia |
- |
- |
- |
- |
- |
retinal disease |
stage 5 chronic kidney disease |
1 |
1 |
LOVD |
00380358 |
- |
PubMed: M'hamdi_2014 |
- |
F |
yes |
Tunisia |
Tunisian |
- |
- |
- |
- |
retinal disease |
retinitis pigmentaria |
1 |
1 |
LOVD |
00381728 |
- |
PubMed: Wang-2014 |
- |
- |
no |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
2 |
1 |
LOVD |
00385231 |
- |
PubMed: Redin-2012 |
- |
- |
- |
- |
Melanesian |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00385254 |
- |
PubMed: Redin-2012 |
- |
- |
- |
Tunisia |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00385255 |
- |
PubMed: Redin-2012 |
- |
- |
- |
Tunisia |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00385285 |
- |
PubMed: M'hamdi-2014 |
- |
F |
yes |
Tunisia |
Tunisian |
- |
- |
- |
- |
retinal disease |
obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation |
1 |
1 |
LOVD |
00385949 |
- |
PubMed: Gonzalez-del Pozo-2013 |
- |
M |
- |
Spain |
spanish |
- |
- |
- |
- |
retinal disease |
Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, Obese, learning disabilities, kidney cysts, kidney transplant, poor coordination |
1 |
1 |
LOVD |
00390811 |
- |
PubMed: Khateb-2016 |
two siblings affected by SeniorLoken syndrome due to a combined diagnosis of early-onset RP and renal failure, which resulted in kidney transplantation at the age of 35 years in both patients |
- |
- |
- |
Arab/ Muslim |
- |
- |
- |
- |
retinal disease |
- |
1 |
2 |
LOVD |
00391386 |
54 |
{PMID:Méjécase 2020:3278337 |
- |
? |
- |
United Arab Emirates |
- |
- |
- |
- |
- |
retinal disease |
diagnosis unsure |
1 |
1 |
LOVD |
00391730 |
117 |
PubMed: Sallum 2020 |
- |
? |
- |
Brazil |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right/left eye: counting fingers |
2 |
1 |
LOVD |
00391752 |
137 |
PubMed: Sallum 2020 |
- |
? |
- |
Brazil |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right/left eye: hand movement |
3 |
1 |
LOVD |
00395611 |
RP-2997 |
PubMed: Perea-Romero 2021 |
- |
- |
- |
Spain |
- |
- |
- |
- |
- |
retinal disease |
dyschromatopsia, photophobia, rod-cone dystrophy, hypertension, chronic kidney disease, renal cystrenal transplant |
1 |
1 |
LOVD |
00397661 |
F848 (II-1) |
PubMed: Helou 2008 |
- |
- |
no |
Italy |
- |
- |
- |
- |
- |
retinal disease |
tapetoretinal degeneration (vision 1/10 at 44) |
1 |
1 |
LOVD |
00398528 |
Pat4 |
PubMed: Moey 2015 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ID |
see paper; ..., severe intellectual disability; 11y-speech delay, no words; microcephaly, hypotonia, hypogonadism, myoclonus; 11y-st, 11y-not walking |
1 |
1 |
Johan den Dunnen |
00398529 |
A057 |
PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ID |
see paper; ..., moderate intellectual disability; speech delay, limited speech later in life; hyperactive |
1 |
1 |
Johan den Dunnen |
00398530 |
ON1 |
PubMed: Froyen 2012, PubMed: Moey 2015 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ID |
see paper; ..., developmental delay, mild-moderate intellectual disability; marked speech delay, 7y-partial lack of speech; hyperactivity, attention problems, self-destructing behavior; facial abnormalities |
1 |
1 |
Johan den Dunnen |
00398531 |
AU88848 |
PubMed: Froyen 2012, PubMed: Moey 2015 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ID |
see paper; ..., mild intellectual disability; |
1 |
1 |
Johan den Dunnen |
00398532 |
FTD |
PubMed: Froyen 2012, PubMed: Moey 2015 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
ID |
see paper; ..., developmental delay, mild intellectual disability ; speech delay; functional heart murmur, chronic vomiting, diarrhea, urolithiasis, bilateral inguinal hernia, cryptorchidism; facial dysmorphies; paroxysmal sleep episodes; attention-deficit hyperactivity disorder, hyperactivity; EEG abnormal |
1 |
1 |
Johan den Dunnen |
00398533 |
F538 |
PubMed: Froyen 2012, PubMed: Moey 2015 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
ID |
see paper; ..., moderate intellectual disability; stutter, limited speech; |
1 |
1 |
Johan den Dunnen |
00398534 |
A009/MRX17 |
{PMID Gedeon 1994:7943039}, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 |
- |
- |
- |
Australia |
- |
- |
- |
- |
- |
ID |
see paper; ..., mild intellectual disability; slow speech development; hyperactivity |
1 |
1 |
Johan den Dunnen |
00399816 |
1022 |
PubMed: Tang 2022, Journal: Tang 2022 |
- |
- |
- |
China |
- |
- |
- |
- |
- |
NPHP |
- |
2 |
1 |
Johan den Dunnen |
00399817 |
1019 |
PubMed: Tang 2022, Journal: Tang 2022 |
- |
- |
- |
China |
- |
- |
- |
- |
- |
NPHP |
- |
2 |
1 |
Johan den Dunnen |
00407378 |
F1241 |
PubMed: Otto 2008 |
- |
? |
no |
Kuwait |
- |
- |
- |
- |
- |
retinal disease |
extrarenal manifestations: none |
1 |
1 |
LOVD |
00407379 |
F1270 |
PubMed: Otto 2008 |
- |
? |
yes |
Turkey |
- |
- |
- |
- |
- |
retinal disease |
extrarenal manifestations: mild hearing impairment |
1 |
1 |
LOVD |
00407380 |
F1183 |
PubMed: Otto 2008 |
- |
? |
no |
Sweden |
- |
- |
- |
- |
- |
retinal disease |
extrarenal manifestations: none |
1 |
1 |
LOVD |
00407381 |
F1322-1 |
PubMed: Otto 2008 |
two individuals from this family |
? |
yes |
Pakistan |
- |
- |
- |
- |
- |
retinal disease |
extrarenal manifestations: short stature |
1 |
1 |
LOVD |
00407382 |
F1322-2 |
PubMed: Otto 2008 |
two individuals from this family |
? |
yes |
Pakistan |
- |
- |
- |
- |
- |
retinal disease |
extrarenal manifestations: short stature |
1 |
1 |
LOVD |
00407673 |
K-5 |
PubMed: Kang 2016 |
- |
? |
- |
Korea, South (Republic) |
- |
- |
- |
- |
- |
retinal disease |
end-stage renal disease (years): 2.5, extra-renal manifestations: optic nerve anomaly |
1 |
1 |
LOVD |
00413759 |
Case 1 |
PubMed: Chan 2016 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
RP with bone spicule formation in the periphery; constricted visual fields and a generalized reduction in all amplitudes of the full-field electroretinogram. |
1 |
1 |
LOVD |
00418815 |
2_V:2 |
PubMed: Sellami 2006 |
Family 2 (article in French) (article in French) |
M |
- |
- |
- |
- |
- |
- |
- |
NPHP1 |
age at renal failure: 18y; age at end-stage renal failure: 19y; retinal dystrophy |
1 |
1 |
LOVD |
00418816 |
2_V:6 |
PubMed: Sellami 2006 |
Family 2 (article in French) (article in French) |
M |
- |
- |
- |
- |
- |
- |
- |
NPHP1 |
age at renal failure: 20y; age at end-stage renal failure: 21y; no retinal dystrophy |
1 |
1 |
LOVD |
00418817 |
2_V:7 |
PubMed: Sellami 2006 |
Family 2 (article in French) (article in French) |
M |
- |
- |
- |
- |
- |
- |
- |
NPHP1 |
age at renal failure: 19y; age at end-stage renal failure: ; no retinal dystrophy |
1 |
1 |
LOVD |
00418818 |
2_V:11 |
PubMed: Sellami 2006 |
Family 2 (article in French) (article in French) |
M |
- |
- |
- |
- |
- |
- |
- |
NPHP1 |
age at renal failure: 25y; age at end-stage renal failure: ; retinal dystrophy |
1 |
1 |
LOVD |
00418819 |
2_V:12 |
PubMed: Sellami 2006 |
Family 2 (article in French) (article in French) |
F |
- |
- |
- |
- |
- |
- |
- |
NPHP1 |
age at renal failure: 15y; age at end-stage renal failure: 15y; no retinal dystrophy |
1 |
1 |
LOVD |
00418820 |
2_V:13 |
PubMed: Sellami 2006 |
Family 2 (article in French) (article in French) |
M |
- |
- |
- |
- |
- |
- |
- |
NPHP1 |
age at renal failure: 20y; age at end-stage renal failure: 24y; no retinal dystrophy |
1 |
1 |
LOVD |
00418825 |
F1114_II-1 |
PubMed: Hoefele 2007 |
family F1114, individual II-1 |
M |
- |
Hungary |
- |
- |
- |
- |
- |
NPHP1 |
age at end-stage renal failure: 9y; extrarenal manifestations: retinitis pigmentosa |
1 |
1 |
LOVD |
00418827 |
A11_II-1 |
PubMed: Hoefele 2007 |
family A11, individual II-1 |
M |
- |
France |
- |
- |
- |
- |
- |
NPHP1 |
age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis |
1 |
1 |
LOVD |
00418828 |
F24_II-1 |
PubMed: Hoefele 2007 |
family F24, individual II-1 |
F |
- |
Germany |
- |
- |
- |
- |
- |
NPHP1 |
extrarenal manifestations: no data available |
2 |
1 |
LOVD |
00418829 |
F24_II-2 |
PubMed: Hoefele 2007 |
family F24, individual II-2 |
F |
- |
Germany |
- |
- |
- |
- |
- |
NPHP1 |
age at end-stage renal failure: 14y; extrarenal manifestations: no data available |
2 |
1 |
LOVD |
00418834 |
F 700_II-6 |
PubMed: Hoefele 2007 |
family F 700, individual II-6 |
- |
- |
Turkey |
- |
- |
- |
- |
- |
NPHP1 |
age at end-stage renal failure: 10y; extrarenal manifestations: cerebellar vermis hypoplasia |
1 |
1 |
LOVD |
00418838 |
F 616_II-2 |
PubMed: Hoefele 2007 |
family F 616, individual II-2 |
- |
- |
Germany |
- |
- |
- |
- |
- |
NPHP1 |
age at end-stage renal failure: 14y; extrarenal manifestations: liver fibrosis |
1 |
1 |
LOVD |
00418839 |
F 800_II-1 |
PubMed: Hoefele 2007 |
family F 800, individual II-1 |
- |
- |
United States |
- |
- |
- |
- |
- |
NPHP1 |
extrarenal manifestations: infantile nephronophthisis, ocular motor apraxia, polydactyly |
1 |
1 |
LOVD |
00418840 |
F 244_II-5 |
PubMed: Hoefele 2007 |
family F 244, individual II-5 |
- |
- |
Morocco |
- |
- |
- |
- |
- |
NPHP1 |
age at end-stage renal failure: 1y; extrarenal manifestations: situs inversus, infantile nephronophthisis |
1 |
1 |
LOVD |