Disease #00116 (ND (Norrie disease), OMIM:310600)

Official abbreviation	ND
Name	Norrie disease
OMIM ID	310600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	71
Phenotype entries for this disease	73
Associated with 1 gene	NDP
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-03-13 14:01:08 +01:00 (CET)
Date last edited	2022-12-31 11:13:32 +01:00 (CET)

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'

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71 entries on 1 page. Showing entries 1 - 71.

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
00000396	-	PubMed: Romaniello 2013	-	M	-	(Italy)	-	>08y	-	-	-	CRMCC, ND	-	CTC1, NDP	CTC1, NDP	3	1	Anne Polvi
00037527	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037528	-	PubMed: Schuback 1995	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037529	-	Berger 1992	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037530	-	Berger 1992	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037531	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037532	-	Fuchs 1996	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037533	-	Yamada 2001	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037534	-	Gal 1996	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037536	-	PubMed: Schuback 1995	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037537	-	Meindl 1992	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037538	-	Ott 2000	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037539	-	PubMed: Schuback 1995	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037540	-	Walker 1997	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037541	-	PubMed: Riveiro-Alvarez 2005	-	-	-	Spain	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037542	-	Wu 2007	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037543	-	Berger 1992	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037544	-	PubMed: Schuback 1995	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037545	-	Mintz-Hittner 1996	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037546	-	Berger 1992	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037547	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037548	-	PubMed: Riveiro-Alvarez 2005	-	-	-	Spain	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037550	-	Fuchs 1996	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037552	-	Wong 1993	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037553	-	PubMed: Schuback 1995	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037554	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037555	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037556	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037557	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037558	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037559	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037560	-	PubMed: Riveiro-Alvarez 2005	-	-	-	Spain	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037561	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037562	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	2	Frans Cremers
00037563	-	Joos 1994	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037564	-	Wu 2007	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037565	-	Caballero 1996	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00037566	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	ND	-	NDP	NDP	1	1	Frans Cremers
00265315	QT675 IV:6	PubMed: Yang 2012	4 generation family, 4 affected	M	no	China	-	-	-	-	-	EVR;FEVR, ND	Norrie's disease (HP:0000407), total retinal detachment (HP:0000541)	NDP	NDP	1	4	Jasmine Chen
00265352	QT686 II:2	PubMed: Yang 2012	2 generation family, 1 affected (isolated)	M	no	China	-	-	-	-	-	ND	Norrie disease (HP:0000407), microphthalmia (HP:0000568)	NDP	NDP	1	1	Jasmine Chen
00265353	QT682 IV:8	PubMed: Yang 2012	4 generation family, 3 affected	M	no	China	-	-	-	-	-	ND	Norrie disease (HP:0000407), total retinal detachment (HP:0000541)	NDP	NDP	1	3	Jasmine Chen
00265354	QT834 II:1	PubMed: Yang 2012	2 generation family, 1 affected, isolated	M	no	China	-	-	-	-	-	ND	Norrie disease (HP:0000407), total retinal detachment (HP:0000541)	NDP	NDP	1	1	Jasmine Chen
00265355	QT871 IV:2	PubMed: Yang 2012	4 generation family, 2 affected	M	no	China	-	-	-	-	-	ND	Norrie disease (HP:0000407), total retinal detachment	NDP	NDP	1	2	Jasmine Chen
00274336	V-1	PubMed: Gal 2014	5 generation family, 13 affected	M	yes	(Israel)	Bedouin	-	-	-	-	EVR5, EVR;FEVR, ND, PHPVAR	blindness (HP:0000618), phthisis bulbi (HP:0000667)	-	TSPAN12	1	13	Jasmine Chen
00274337	V-8	PubMed: Gal 2014	5 generation family, 13 affected	M	yes	Israel	Bedouin	-	-	-	-	EVR5, EVR;FEVR, ND, PHPVAR	total retinal detachment (HP:0000541)	-	TSPAN12	1	12	Jasmine Chen
00274456	Family 1	PubMed: Dickinson 2006	monozygotic male twins	M	?	Australia	-	-	-	-	-	EVR2, EVR;FEVR, ND	bilateral total detachment (HP:0000541), Norrie-related deafness (HP:0000365)	NDP	NDP	1	2	Jasmine Chen
00274677	Family 1 III:6	PubMed: Pelcastre 2010	3 generation family, 12 affected (all male)	M	no	Mexico	-	-	-	-	-	EVR2, EVR;FEVR, ND	total retinal detachment (HP:0030490)	NDP	NDP	1	12	Jasmine Chen
00274678	Family 2 III:1	PubMed: Pelcastre 2010	4 generation family, 7 affected (all male)	M	no	Mexico	-	-	-	-	-	EVR2, EVR;FEVR, ND	retinal detachment (HP:0030490), vitreoretinal haemorrhage (HP:0007902)	NDP	NDP	1	7	Jasmine Chen
00274679	Family 3 III:8	PubMed: Pelcastre 2010	4 generation family, 4 affected (male)	M	no	Mexico	-	-	-	-	-	EVR2, EVR;FEVR, ND	exudative vitreoretinopathy (HP:0030490), bilateral phthisis (HP:0000667), subscapular cataract (HP:0000523)	NDP	NDP	1	4	Jasmine Chen
00275445	Family 5 III-1	PubMed: Kondo 2007	3 generation, 3 affected	M	no	Japan	-	-	-	-	lensectomy	EVR2, EVR;FEVR, ND	total retinal detachment (HP:0000541)	NDP	NDP	1	3	Jasmine Chen
00275447	Family 6 III-1	PubMed: Kondo 2007	3 generation, 2 affected	M	no	Japan	-	-	-	-	-	EVR2, EVR;FEVR, ND	-	NDP	NDP	1	2	Jasmine Chen
00275449	-	PubMed: Lin 2010	2 generation, 2 affected	M	?	Viet Nam	-	-	-	-	-	EVR2, EVR;FEVR, ND	-	NDP	NDP	1	1	Jasmine Chen
00275456	Family 1 II:2	PubMed: Riveiro-Alvarez	2 generation, 1 affected (isolated)	M	no	Spain	-	-	-	-	-	EVR2, EVR;FEVR, ND	microphthalmia (HP:0000568), sensorineural hearing loss (HP:0000407), developmental delay (HP:0001249)	NDP	NDP	1	1	Jasmine Chen
00275461	Family 2 II:2	PubMed: Riveiro-Alvarez 2005	Speak to Carmel - variants do not match Name Checker (and Frans Cremer's submission which should be the same as this one) under c.DNA 2 generation, 1 affected	M	no	Spain	-	-	-	-	-	EVR2, EVR;FEVR, ND	microphthalmia (HP:0000568), phthisis bulbi (HP:00000667), hearing loss (HP:0000407), intellectual disability (HP:0001249)	NDP	-	-	1	Jasmine Chen
00416884	V-2	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:light perception,20/60; initial refractive error:+ 0.75 sphere left eye; slit-lamp examination:normal /normal; fundus: avascular periphery total retinal detachment /avascular periphery, retinal detachment	NDP	NDP	1	1	LOVD
00416885	III-15	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:hand motions,20/40; initial refractive error:-3.75 sphere left eye; slit-lamp examination:white cataract /posterior subcapsular cataract; fundus: congenital retinal fold /temporal dragging of vessels, avascular periphery, retinal detachment	NDP	NDP	1	1	LOVD
00416886	III-16	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:20/25,20/160; initial refractive error:-8.50 sphere right eye; slit-lamp examination:posterior subcapsular cataract /brunescent cataract; fundus: peripheral pigmentary changes /peripheral pigmentary changes	NDP	NDP	1	1	LOVD
00416887	III-17	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:light perception,20/30; initial refractive error:-6.75 sphere right eye/ -8.75 sphere left eye; slit-lamp examination:normal /normal; fundus: congenital retinal fold, retinal detachment /normal	NDP	NDP	1	1	LOVD
00416888	IIl-13	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:20/50,count fingers; initial refractive error:-2.00 sphere right eye/left eye; slit-lamp examination:normal /posterior subcapsular cataract; fundus: avascular peripheral retina, peripheral fibrotic ridge, temporal dragging of vessels /avascular peripheral retina, peripheral fibrotic ridge, macular dystrophy	NDP	NDP	1	1	LOVD
00416889	IV-12	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:enucleation,20/20; initial refractive error:+ 5.00 sphere left eye; slit-lamp examination:enucleation /normal; fundus: retinal detachment /temporal dragging of vessels	NDP	NDP	1	1	LOVD
00416890	V-12	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:20/20,no light perception; initial refractive error:+ 1.00 sphere right eye; slit-lamp examination:normal /white cataract; fundus: temporal dragging of vessels, abnormal vessels /retinal detachment	NDP	NDP	1	1	LOVD
00416891	III-8	PubMed: Allen 2006	-	M	-	United States	Iowa	-	-	-	-	ND	best corrected visual acuity right, left eye:20/30,20/30; initial refractive error:+ 1.00 sphere right eye/left eye; slit-lamp examination:2 + nuclear sclerosis /2 + nuclear sclerosis; fundus: mild peripheral and central retinal pigment epithelial changes /mild peripheral and central retinal pigment epithelial changes	NDP	NDP	1	1	LOVD
00416892	IV-27	PubMed: Allen 2006	-	M	-	United States	Syrian	-	-	-	-	ND	-	NDP	NDP	1	1	LOVD
00416893	IV-31	PubMed: Allen 2006	-	M	-	United States	Syrian	-	-	-	-	ND	moderately affected, FEVR	NDP	NDP	1	1	LOVD
00416894	IV-33	PubMed: Allen 2006	-	M	-	United States	Syrian	-	-	-	-	ND	Norrie disease	NDP	NDP	1	1	LOVD
00416968	3	PubMed: Wu 2007	-	M	-	-	-	-	-	-	-	ND	no hearing impairment	NDP	NDP	1	1	LOVD
00416971	6	PubMed: Wu 2007	-	M	-	-	-	-	-	-	-	ND	no hearing impairment	NDP	NDP	1	1	LOVD
00416972	8	PubMed: Wu 2007	brother of 9	M	-	-	-	-	-	-	-	ND	hearing impairment	NDP	NDP	1	1	LOVD
00416973	9	PubMed: Wu 2007	brother of 8	M	-	-	-	-	-	-	-	ND	no hearing impairment	NDP	NDP	1	1	LOVD
00416974	10	PubMed: Wu 2007	-	M	-	-	-	-	-	-	-	ND	no hearing impairment	NDP	NDP	1	1	LOVD
00417394	39	PubMed: Dailey 2015	20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants	-	-	-	-	-	-	-	-	ND	-	FZD4	FZD4	2	1	LOVD

Legend

How to query

Global Variome shared LOVD

CXorf59 (chromosome X open reading frame 59)