Disease #00058 (CORD (dystrophy, cone-rod (CORD)))

Official abbreviation	CORD
Name	dystrophy, cone-rod (CORD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	363
Phenotype entries for this disease	361
Associated with 7 genes	ADAM9, DRAM2, GUCY2D, PITPNM3, POC1B, RAB28, TTLL5
Associated tissues	-
Disease features	-
Remarks	-
Date created	2012-09-22 11:31:25 +02:00 (CEST)
Date last edited	2020-08-30 09:43:59 +02:00 (CEST)

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.

363 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

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
00000210	-	PubMed: Abu-Safieh-2013	-	-	-	(Saudi Arabia)	-	-	-	-	-	CORD	-	MKS1	EYS, MKS1, RBP3	3	1	Leen Abu Safieh
00016848	-	PubMed: El Shamieh 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	M	yes	-	Africa-N;Jewish-Sephardic	-	-	-	-	CORD	RCD diagnosed in late teens; 35y-night blindness followed by changes in midperipheral visual fields/undetectable responses in full-field electroretinogram by approximately; 50y-overweight, complained of moderate hearing difficulties; best-corrected visual acuity 20/800 (R), 20/640 (L); kinetic visual-field test revealed decreased central retinal sensitivity, bilateral peripheral-field constriction; typical RCD fundus changeswith additional macular thinning	KIZ	KIZ	1	1	Marianne Vos (LOVD-team)
00017031	-	PubMed: El Shamieh 2014	2-generation family, 1 affected, unaffected parents	M	yes	Spain	Spanish	-	-	-	-	CORD	BCVA 20/20 both eyes; annular scotoma in the midperiphery; preservation of the peripheral isopter; Typical RCD fundus changes with macular preservation.	KIZ	KIZ	1	1	Marianne Vos (LOVD-team)
00017032	-	PubMed: El Shamieh 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	?	France	Italian	-	-	-	-	CORD	Well tolerated congenital ichthyosis; BCVA was 20/40 right eye; 20/32 left; A binocular kinetic visual field was reduced to the central 10 with bitemporal islands of perception peripherally. Typical RCD Fundus changes with relative macular preservation	KIZ	KIZ	2	1	Marianne Vos (LOVD-team)
00032731	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	CORD	-	NR2E3	NR2E3	1	1	Pascal Escher
00032732	-	PubMed: Bernal 2008	-	-	-	Spain	Spanish	-	-	-	-	CORD	-	NR2E3	NR2E3	1	2	Pascal Escher
00032750	-	PubMed: Sharon 2003	2 families, 2 cases	-	-	-	-	-	-	-	-	CORD	-	NR2E3	NR2E3	1	2	Pascal Escher
00032765	-	PubMed: Sharon 2003	2 families, 3 cases	-	-	-	-	-	-	-	-	CORD	-	NR2E3	NR2E3	2	3	Pascal Escher
00032768	-	PubMed: Sharon 2003	-	-	-	-	-	-	-	-	-	CORD	-	NR2E3	NR2E3	2	1	Pascal Escher
00032772	-	PubMed: Sharon 2003	2 families, 2 cases	-	-	-	-	-	-	-	-	CORD	-	NR2E3	NR2E3	2	2	Pascal Escher
00032831	-	PubMed: Pras 2009	-	-	-	-	Arabic	-	-	-	-	CORD	-	PROM1	PROM1	1	3	Pascal Escher
00033038	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	1	1	Johan den Dunnen
00033040	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	1	1	Johan den Dunnen
00033045	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033046	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033047	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia, retinitis pigmentosa	CRB1	CRB1	2	1	Johan den Dunnen
00033048	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia, retinitis pigmentosa	CRB1	CRB1	2	1	Johan den Dunnen
00033049	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia, retinitis pigmentosa	CRB1	CRB1	2	1	Johan den Dunnen
00033050	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia, retinitis pigmentosa	CRB1	CRB1	2	1	Johan den Dunnen
00033051	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia, retinitis pigmentosa	CRB1	CRB1	2	1	Johan den Dunnen
00033052	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia, retinitis pigmentosa	CRB1	CRB1	2	1	Johan den Dunnen
00033055	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033057	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033063	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033072	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033073	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033074	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset	CRB1	CRB1	2	1	Johan den Dunnen
00033075	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia	CRB1	CRB1	2	1	Johan den Dunnen
00033078	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CORD	early onset, retinal telangiectasia	CRB1	CRB1	2	1	Johan den Dunnen
00033361	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	CORD	-	RPGRIP1	RPGRIP1	2	1	Leen Abu Safieh
00033369	-	-	2 generation family 1 affected, 2 unaffected carrier parents	M	no	Pakistan	-	-	-	-	-	CORD	Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light	SEMA4A	SEMA4A	2	1	Raheel Qamar
00033370	-	-	-	?	?	Pakistan	-	-	-	-	-	CORD	Fundus granularity, macular degeneration and peripheral retinal pigmentation; Onset Progressive loss of visual acuity and colour vision, night blindness, photophobia and epiphora in bright light	SEMA4A	SEMA4A	2	1	Raheel Qamar
00033605	Pat1bl	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	CORD	Cone-rod dystrophy with nystagmus	RPGRIP1	RPGRIP1	2	1	Marcel Nelen
00033611	-	-	-	-	yes	-	-	-	-	-	-	CORD	cone-rod dystrophy with polydactyly	C8orf37	C8orf37	2	1	Kornelia Neveling
00033612	-	-	-	-	yes	-	-	-	-	-	-	CORD	-	C8orf37	C8orf37	2	1	Kornelia Neveling
00033667	-	PubMed: Bax 2015	2-generation family, 1 affected, unaffected parents	M	-	Netherlands	-	-	-	-	-	CORD	CRD; progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced	ABCA4	ABCA4	2	1	Nathalie Bax
00033672	-	PubMed: Bax 2015	patient AIV1	M	no	Netherlands	-	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced	ABCA4	ABCA4	2	1	Nathalie Bax
00033710	-	PubMed: Sciezyiska 2015	-	-	-	Poland	-	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced.	ABCA4	ABCA4	2	1	Monika Oldak
00034520	-	-	-	-	yes	Pakistan	Multan	-	-	-	-	CORD	cone-rod dystrophy	CNGA3	CNGA3	1	1	Zubair Ahmed
00038286	-	PubMed: Khan 2013	4 generation family, 3 affecetd	F	yes	Saudi Arabia	Arab	-	-	-	-	CORD	childhood cone-rod dystrophy and macular cystic degeneration	CRB1	CRB1	1	3	Frans Cremers
00038287	-	PubMed: Khan 2013	4 generation family, 3 affecetd	M	yes	Saudi Arabia	Arab	-	-	-	-	CORD	childhood cone-rod dystrophy and macular cystic degeneration	CRB1	CRB1	1	3	Frans Cremers
00038288	-	PubMed: Khan 2013	4 generation family, 3 affecetd	M	yes	Saudi Arabia	Arab	-	-	-	-	CORD	childhood cone-rod dystrophy and macular cystic degeneration	CRB1	CRB1	1	3	Frans Cremers
00038347	-	PubMed: Abu-Safieh 2013	-	?	?	Saudi Arabia	Arab	-	-	-	-	CORD	?	CRB1	CRB1	2	2	Frans Cremers
00046458	FamPatIII4	PubMed: Lazar 2015; Journal: Lazar 2015	3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister	F	-	Israel	Arab, Muslim	-	-	-	-	CORD, LGMDR2;LGMD2B	muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340), visual loss (HP:0000572), photophobia (HP:0000613), pendular nystagmus (HP:0012043), rod-cone dystrophy (HP:0000510)	ALMS1, DYSF	ALMS1, DYSF	3	2	Csilla Lazar
00052445	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	RPE65	RPE65	1	1	Muhammad Ajmal
00052446	-	PubMed: Kabir 2013	-	M	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	RPE65	RPE65	1	1	Muhammad Ajmal
00052447	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	RPE65	RPE65	1	1	Muhammad Ajmal
00052448	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	RPE65	RPE65	1	1	Muhammad Ajmal
00052617	-	PubMed: Bereta 2008	-	?	no	-	-	-	-	-	-	CORD	cone-rod dystrophy	RPE65	RPE65	1	1	Muhammad Ajmal
00052619	-	PubMed: Bereta 2008	-	?	no	-	-	-	-	-	-	CORD	cone-rod dystrophy	RPE65	RPE65	1	1	Muhammad Ajmal
00052755	FamHPatHJ	PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004	3-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Germany	Netherlands	-	-	-	-	CORD	cone-rod dystrophy; pale optic disc, bull's eye maculopathy, thin retinal arteries, and increased granularity of the RPE in the periphery	RPE65	RPE65	2	1	Muhammad Ajmal
00052756	FamBPatBR	PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Germany	Netherlands	-	-	-	-	CORD	cone-rod dystrophy; slightly increased granularity in the macula, together with decreased muscular reflex, minimal thinning of the retinal arteries and increased granularity of the RPE in the periphery, together with a very blond fundus in the circumpapillary area	RPE65	RPE65	3	1	Muhammad Ajmal
00052757	FamLPatLH	PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004	3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents	M	no	Germany	Netherlands	-	-	-	-	CORD	cone-rod dystrophy; slightly pale optic disc, slightly increased granularity in the macula, and normal retinal vessels.	RPE65	RPE65	2	2	Muhammad Ajmal
00052758	FamLPatLJ	PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004	sister	F	no	Germany	Netherlands	-	-	-	-	CORD	cone-rod dystrophy; clearly increased granularity of the RPE in the periphery, normal retinal vessels	RPE65	RPE65	2	1	Muhammad Ajmal
00059790	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	CORD	-	CNNM4	CNNM4	1	1	Leen Abu Safieh
00059794	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	CORD	-	C21orf2	C21orf2	1	1	Leen Abu Safieh
00059796	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	CORD	spastic paraparesis, white matter disease	ACBD5	ACBD5	1	1	Leen Abu Safieh
00074439	PatN10	PubMed: Nikopoulos 2016	2-generation family, 1 affected, unaffected parents	M	no	Greece	Greek	-	-	-	-	CORD	-	-	CEP78	1	1	Konstantinos Nikopoulos
00074440	FamPat2716s15/2702r34	PubMed: Nikopoulos 2016	2-generation family, 2 affected (f, M), unaffected parents	F;M	no	Sweden	Swedish	-	-	-	-	CORD	-	-	CEP78	2	2	Konstantinos Nikopoulos
00074490	MOL0773PatII1	PubMed: Namburi 2016	2-generation family, 1 affected, unaffected parents	F	yes	Israel	Jewish-Oriental	-	-	-	-	CORD	see paper; ..., diagnoised with CORD+SNHL (cone-rod degeneration with sensorineural hearing loss)	CEP78	CEP78	1	1	Prasanthi Namburi
00074708	-	PubMed: Glockle 2014	-	?	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074709	-	PubMed: Glockle 2014	-	?	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)	ABCA4	ABCA4	3	1	Stéphanie Cornelis
00074710	-	PubMed: Glockle 2014	-	?	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074711	-	PubMed: Glockle 2014	-	?	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074727	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074728	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074729	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074730	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074731	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074732	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074733	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074734	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074735	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074736	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074737	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074738	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074739	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074740	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074741	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074742	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074743	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074744	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074745	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074746	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074747	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074748	-	PubMed: Alapati 2014	-	?	?	United States	American	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074801	-	PubMed: Papaioannou 2000	Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately.	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074802	-	PubMed: Papaioannou 2000	Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately.	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074803	-	PubMed: Papaioannou 2000	Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately.	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074804	-	PubMed: Papaioannou 2000	-	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	3	1	Stéphanie Cornelis
00074805	-	PubMed: Papaioannou 2000	-	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	3	1	Stéphanie Cornelis
00074806	-	PubMed: Papaioannou 2000	-	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	3	1	Stéphanie Cornelis
00074807	-	PubMed: Papaioannou 2000	Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately.	?	?	United Kingdom (Great Britain)	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz ﬂicker) and rod (scotopic) ERGs and the absence of retinal ﬂecks	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074831	-	PubMed: Briggs 2001	2-generation family, 1 affected	M	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074837	-	PubMed: Briggs 2001	-	?	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074841	-	PubMed: Briggs 2001	2-generation family, 1 affected	F	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	2	1	Stéphanie Cornelis
00074845	-	PubMed: Briggs 2001	-	?	?	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074907	-	PubMed: Briggs 2001	2-generation family, 3 affected	F	yes	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074908	-	PubMed: Briggs 2001	Sibling from 032-030; 2-generation family, 3 affected	M	yes	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	1	1	Stéphanie Cornelis
00074909	-	PubMed: Briggs 2001	Sibling from 032-030; 2-generation family, 3 affected	M	yes	-	?	-	-	-	-	CORD	cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)	ABCA4	ABCA4	1	1	Stéphanie Cornelis

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Global Variome shared LOVD

DCTN1 (dynactin 1)