All individuals with variants in gene CRYGD

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.

137 entries on 2 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00013672	-	-	-	M	-	Germany	-	-	-	no (pedigree)	-	FAP1	no additional phenotype data available; colorectal phenotype classical, ? nr polyps	1	1	Stefan Aretz
00033862	-	-	4-generation family, 11 affecteds	-	-	United States	-	-	-	-	-	CTRCT	punctate cataract, juvenile progressive	1	11	Johan den Dunnen
00033863	-	-	6-generation family, 25 affecteds	-	-	China	-	-	-	-	-	CTRCT	coralliform/nuclear	1	25	Johan den Dunnen
00033864	-	-	affected father and daugther	-	-	India	-	-	-	-	-	CTRCT	lamellar	1	2	Johan den Dunnen
00033865	-	-	5-generation family, 19 affecteds	-	-	Morocco	-	-	-	-	-	CTRCT	cerulean	1	19	Johan den Dunnen
00033866	-	-	4-generation family, 8 affecteds	-	-	United States	white	-	-	-	-	CTRCT	coral-shaped, coralliform	1	8	Johan den Dunnen
00033867	family	PubMed: Plotnikova 2007	7-generation family, 77 affecteds	-	-	Mongolia	Asian, central; white	-	-	-	-	CTRCT	congenital; nonnuclear polymorphic congenital cataract	1	77	Johan den Dunnen
00033868	-	-	4-generation family, 7 affecteds	-	-	China	-	-	-	-	-	CTRCT	nuclear golden crystal	1	7	Johan den Dunnen
00033869	-	-	4-generation family, 5 affecteds	-	-	Switzerland	-	-	-	-	-	CTRCT	aculeiform	1	5	Johan den Dunnen
00033870	-	-	affected brother and sister, parents not a carrier	-	-	Mexico	-	-	-	-	-	CTRCT	nuclear	1	2	Johan den Dunnen
00033871	CCMC0109	PubMed: Hansen 2007, PubMed: Hansen 2009	affected mother and daugther	F	-	Denmark	-	-	-	-	-	CTRCT	congenital cataract, total or nearly total; microcornea	1	2	Johan den Dunnen
00033872	-	-	3-generation family, affected father and daugther	-	-	India	-	-	-	-	-	CTRCT	central nuclear	1	2	Johan den Dunnen
00033884	-	-	4-generation family, 3 affected Fs, 1 male	F	-	India	-	-	-	-	-	CTRCT	congenital; nonsyndromic presenile	2	4	Johan den Dunnen
00033975	-	-	3-generation family, 2 affecteds	-	-	Switzerland	-	-	-	-	-	CTRCT	aculeiform	1	2	Johan den Dunnen
00033976	-	-	2-generation family, 2 affecteds	-	-	Switzerland	-	-	-	-	-	CTRCT	aculeiform	1	2	Johan den Dunnen
00033977	-	-	-	-	-	Czech Republic	-	-	-	-	-	CTRCT	protein crystallisation	1	1	Johan den Dunnen
00033978	-	PubMed: Plotnikova 2007	-	-	-	Mongolia	Asian, central; white	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00033979	-	-	3-generation family, 7 affecteds	-	-	China	-	-	-	-	-	CTRCT	congenital	1	7	Johan den Dunnen
00033980	-	-	4-generation family, 11 affecteds	-	-	China	-	-	-	-	-	CTRCT	coralliform cataracts	1	11	Johan den Dunnen
00033981	-	-	3-generation family, 15 affecteds	-	-	India	-	-	-	-	-	CTRCT	congenital	1	5	Johan den Dunnen
00033982	-	-	affected father, dauther and son	-	-	Brazil	-	-	-	-	-	CTRCT	nuclear	3	3	Johan den Dunnen
00033983	-	-	3-generation family, 8 affecteds	-	-	China	-	-	-	-	-	CTRCT	congenital; coralliform	1	8	Johan den Dunnen
00033984	-	-	4-generation family, 7 affecteds	-	-	China	-	-	-	-	-	CTRCT	congenital; coralliform	1	7	Johan den Dunnen
00033986	-	-	5-generation family, 21 affecteds	-	-	United States	-	-	-	-	-	CTRCT	-	1	21	Johan den Dunnen
00033989	-	-	-	-	-	Brazil	-	-	-	-	-	CTRCT	-	2	5	Johan den Dunnen
00033990	-	-	-	-	-	Brazil	-	-	-	-	-	CTRCT	-	1	9	Johan den Dunnen
00033991	-	-	-	-	-	Brazil	-	-	-	-	-	CTRCT	-	1	7	Johan den Dunnen
00034003	-	PubMed: Roshan 2010	Anterior polar coronary	?	-	India	India	-	-	-	-	CTRCT	at the age of 11 years. Right eye showed the phenotype as anterior polar with coronary cataract and left eye with only anterior polar cataract with a progressive loss of vision. Other ocular examination showed normal ocular movements with clear cornea.	1	1	Lars Hansen
00034006	-	-	3-generation family, 6 affecteds	-	-	India	-	-	-	-	-	CTRCT	zonular, nuclear opacity; microcornea	3	1	Johan den Dunnen
00034007	-	-	family, 3 affecteds	-	-	India	-	-	-	-	-	CTRCT	-	3	1	Johan den Dunnen
00034009	-	-	family, 1 affected	-	-	India	-	-	-	-	-	CTRCT	posterior polar/lenticonus, capsular dehiscence	3	1	Johan den Dunnen
00034010	-	-	family, 2 affecteds	-	-	India	-	-	-	-	-	CTRCT	posterior subcapsula	3	1	Johan den Dunnen
00034011	-	-	3-generation family, 16 affecteds	-	-	India	-	-	-	-	-	CTRCT	lamellar (stationary, non-progressive)	1	1	Johan den Dunnen
00034012	-	-	family, 2 affecteds	-	-	India	-	-	-	-	-	CTRCT	lamellar	2	1	Johan den Dunnen
00034025	-	-	-	F	no	China	-	-	-	-	-	CTRCT	congenital cataract	1	1	Juhua Yang
00065048	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	no family history	F	yes	-	-	-	-	-	-	CCTRCT	R: nuclear, sutural, posterior plaque cataract; R: PFV, microphthalmia, horizontal jerk nystagmus, right divergent squint, strabismus; mild microcephaly, developmental delay, hypotonia, up-slanted and long palpebral fissures, small tapered fingers	1	1	Johan den Dunnen
00072342	FamPatIV1	PubMed: Zhuang 2015, Journal: Zhuang 2015	4 generation family, 4-affecteds (4F), PatIV1	F	no	China	Chinese	-	-	-	-	CCTRCT	impaired visual acuity (HP:0030532), lens opacity (HP:0000518), opacity in the central nucleus region of both lenses (HP:0000518), Y-sutures were also involved with prominent opacity (HP:?), no systemic disease (-HP:?), no other ocular disease (-HP:?)	1	4	Jamie Zeegers
00072355	21866214-FamPatIV7	PubMed: de Figueiredo 2011	4-generation family, 8 affecteds (3F, 5M)/30 unaffecteds, PatIV7 only homozygous case	M	-	Brazil	Brazilian	-	-	-	surgery	CCTRCT	lamellar (HP:0007971), visual acuity (HP:0030532)	1	2	Jamie Zeegers
00072356	21866214FamPatIII22	PubMed: de Figueiredo 2011	PatIII22	M	-	Brazil	Brazilian	>25y	-	-	-	CCTRCT	visual acuity (HP:0030532), pulverulent (HP:0010693)	1	1	Jamie Zeegers
00073637	24465161-FamPatIII1	PubMed: Zhai 2014, Journal: Zhai 2014	3-generation family, affected father/daughter, PatIII1	F	-	China	Chinese	>01y	-	-	-	CCTRCT	bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646)	1	2	Jamie Zeegers
00073638	24465161-FamPatII2	PubMed: Zhai 2014, Journal: Zhai 2014	PatII2	M	-	China	Chinese	>30y	-	-	-	CCTRCT	bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646)	1	1	Jamie Zeegers
00073640	22219628-Fam1PatV1	PubMed: VanderVeen 2011	5-generation family, 18 affecteds (12F, 6M), PatV1	F	-	United States	European, north	-	-	-	-	CCTRCT	fix on light (HP:?), normal pupillary reactions (HP:?), abnormal red reflex (HP:?), left aphakic (HP:?)	1	18	Jamie Zeegers
00073641	22219628-Fam2PatIII1	PubMed: VanderVeen 2011	3-generation family, affected mother/son, PatIII1	M	-	United States	Iranian	-	-	-	-	CCTRCT	bilateral involvement (HP:?), abnormal red reflex (HP:?), specks in the nucleus of the lens (HP:?), clear peripheral and intervening lens (HP:?)	1	2	Jamie Zeegers
00073642	21527994-FamPatI1	PubMed: Wang 2011	3-generation family with 5 affecteds (2F, 3M), PatI1	F	-	China	Chinese	-	-	-	Surgery	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	1	5	Jamie Zeegers
00073644	21527994-FamPatII1	PubMed: Wang 2011	PatII1	M	-	China	Chinese	-	-	-	Surgery	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	1	1	Jamie Zeegers
00073645	21527994-FamPatIII1	PubMed: Wang 2011	PatIII1	M	-	China	Chinese	-	-	-	Surgery	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	1	1	Jamie Zeegers
00073646	21527994-FamPatII3	PubMed: Wang 2011	PatII3	F	-	China	Chinese	-	-	-	-	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	1	1	Jamie Zeegers
00073647	21527994-FamPatII7	PubMed: Wang 2011	PatII7	M	-	China	Chinese	-	-	-	-	CCTRCT	bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?)	1	1	Jamie Zeegers
00073664	19633732-Fam1PatII5	PubMed: Khan 2009	2-generation family, 5-affecteds (5M), PatII5	M	no	Saudi Arabia	-	>04y	-	-	-	CCTRCT	cerulean cataract (HP:0007976), photophobia (HP:0000613), no visual acuity test abnormality (-HP:0030532)	6	5	Jamie Zeegers
00073665	19633732-Fam1PatII4	PubMed: Khan 2009	PatII4	M	no	Saudi Arabia	-	>06y	-	-	-	CCTRCT	cerebral palsy (HP:0100021), difficulty hearing (HP:?), development delay (HP:?), coralliform cateract (HP:0010921)	2	1	Jamie Zeegers
00073667	19633732-Fam1PatII1	PubMed: Khan 2009	PatII1	M	no	Saudi Arabia	-	-	-	-	Surgery	CCTRCT	bilateral pseudophakia (HP:?)	2	1	Jamie Zeegers
00073668	19633732-Fam2PatII1	PubMed: Khan 2009	2-generation family, 1 affected	F	yes	Saudi Arabia	-	>07y	-	-	-	CCTRCT	cerulean cataract (HP:0007976), visual acuity test abnormality (HP:0030532)	1	1	Jamie Zeegers
00183350	ASHG2018-P1223	Zheng ASHG2018 P1223	3-generation family, 3 affecteds	F;M	no	China	-	-	-	-	-	CTRCT	bilateral, autosomal dominant congenital cataract, high myopia	1	3	Johan den Dunnen
00183351	28849415-FamPatI1/III3	PubMed: Dudakova 2017	3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available	F;M	no	Czech Republic	-	-	-	-	-	CTRCT	PatI1 (65y) bilateral catarat 16y, best corrected visual acuity R 0.33/L ?, iris coloboma R, no microcornea;55y-left enucleated for secondary glaucoma PatIII3 (17y) bilateral nuclear cataract, best corrected visual acuity R 0.1/L 0.25, iris no coloboma, no microcornea, horizontal nystagmus (L+R)	1	4	Johan den Dunnen
00183352	28849415-FamPatIII2	PubMed: Dudakova 2017	-	F	-	Czech Republic	-	-	-	-	-	Healthy/Control	clear lenses, best corrected visual acuity 1.0 (L and R), no ocular pathology, no iris coloboma, no microcornea	1	1	Johan den Dunnen
00363778	G598	PubMed: Huang 2015	family	F	-	China	-	-	-	-	-	glaucoma	see paper; ...	1	1	LOVD
00382145	191	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT4	congenital cataract; MIM, 115700	1	1	LOVD
00382146	290	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT4	congenital cataract; MIM, 115700	1	1	LOVD
00385472	15010948	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00412325	199902	-	-	F	no	Germany	-	-	-	-	-	CTRCT4	Developmental cataract, Episodic ataxia, Vertigo, Reduced visual acuity; many affected family members	1	1	Andreas Laner
00434042	Fam22	PubMed: Zhai 2017	3-generation family, 2 affected (F, M)	F	-	China	-	-	-	-	-	CTRCT	coralliform cataract; nystagmus	1	2	Johan den Dunnen
00434044	Fam26	PubMed: Zhai 2017	3-generation family, 3 affected (3F)	F	-	China	-	-	-	-	-	CTRCT	coralliform cataract; nystagmus	1	3	Johan den Dunnen
00434110	CC00171	PubMed: Hansen 2009	2-generation family, affected mother/dauhter	F	-	Denmark	-	-	-	-	-	CTRCT	-	1	2	Johan den Dunnen
00434114	CC00805	PubMed: Cao 2018	-	-	-	Denmark	-	-	-	-	-	CTRCT	-	1	1	Johan den Dunnen
00434119	controls	PubMed: Cao 2018	-	-	-	Denmark	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00434133	Fam5PatIV12	PubMed: Li 2019	6-generation family, 20 affected (9F, 11M)	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract, white opacities	2	20	Johan den Dunnen
00434160	Fam05	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	nuclear cataract; no microphthalmia; no microcornea; no iris malformations	1	1	Johan den Dunnen
00434161	Fam06	PubMed: Fernandez-Alcalde 2021	-	-	-	Spain	-	-	-	-	-	CTRCT	cataract; no microphthalmia; no microcornea; no iris malformations	1	1	Johan den Dunnen
00434202	Pat3	PubMed: Karahan 2021	-	-	-	Turkey	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00434247	Fam23076	PubMed: Jackson 2020	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?	-	1	1	Johan den Dunnen
00434286	Fam26301	PubMed: Jackson 2020	-	-	-	-	Africa;black	-	-	-	-	?	-	1	1	Johan den Dunnen
00434302	CAT-41	PubMed: Zhuang 2019	3-generation family, 5 affected (2F, 3M)	F;M	-	China	-	-	-	-	-	CTRCT	-	1	5	Johan den Dunnen
00434303	CAT-46	PubMed: Zhuang 2019	family	-	-	China	-	-	-	-	-	CTRCT	-	1	1	Johan den Dunnen
00441816	family	PubMed: Gao 2022	4-generation family, 7 affected (5F, 2M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., congenital nuclear cataract, nystagmus	1	7	Johan den Dunnen
00444101	FamCPatIII2	PubMed: Berry 2020	4-generation family, 6 (3F, 3M) affected	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	see paper; ..., pulverulent cataract	1	6	Johan den Dunnen
00444104	FamF	PubMed: Berry 2020	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract	1	1	Johan den Dunnen
00444108	FamJ	PubMed: Berry 2020	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract	1	1	Johan den Dunnen
00444331	Fam5PatIII13	PubMed: Li 2018	4-generation family, 14 affected (6F, 8M)	M	-	China	-	-	-	-	-	CTRCT	cataract	1	14	Johan den Dunnen
00444332	FamPat2	PubMed: Li 2018	2-generation family, 1 affected, unaffected non-carrier mother	M	-	China	-	-	-	-	-	CTRCT	cataract	1	1	Johan den Dunnen
00444333	Fam6PatIII5	PubMed: Li 2018	4-generation family, 8 affected (3F, 5M)	F	-	China	-	-	-	-	-	CTRCT	total cataract, strabismus, nystagmus	1	8	Johan den Dunnen
00444334	FamPat3	PubMed: Li 2018	2-generation family, 1 affected, unaffected non-carrier parents	F	-	China	-	-	-	-	-	CTRCT	total cataract, nystagmus	1	1	Johan den Dunnen
00444862	Fam2	PubMed: Fan 2020	2-generation family, affected father/sib	-	-	China	-	-	-	-	-	CTRCT	binocular, lamellar cataract	1	2	Johan den Dunnen
00444865	Fam5	PubMed: Fan 2020	2-generation family, affected mother/sib	-	-	China	-	-	-	-	-	CTRCT	binocular, coralliform	1	2	Johan den Dunnen
00444914	Fam31PatIII1	PubMed: Ma 2016	3-generation family, affected mother/son/grandmother	M	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral lamellar cataract; mother bilateral cataract and glaucoma, HCD 11 bilateral; grandmother glaucoma and cataracts, HCD 11 bilateral	1	3	Johan den Dunnen
00444924	Fam41PatII1	PubMed: Ma 2016	2-generation family, 1 affected, unaffected parents	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral fetal nuclear cataract, visual acuity R 6/140 L 6/140; father tiny dot opacities	1	1	Johan den Dunnen
00444939	10DG0870	PubMed: Patel 2017	family	-	-	-	-	-	-	-	-	CTRCT	congenital cataract with microcornea; not syndromic	1	2	Johan den Dunnen
00444992	Pat6	PubMed: Reis 2013	-	-	-	United States	jew-Ashkenaz;Israel	-	-	-	-	CTRCT	congenital nuclear cataract, hyperopia, strabismus	1	1	Johan den Dunnen
00445009	Pat23	PubMed: Reis 2013	family, 3 affected	-	-	United States	-	-	-	-	-	CTRCT	early onset adult cataract (40s), retinal detachment	1	1	Johan den Dunnen
00445028	Fam3PatIII3	PubMed: Taylan Sekeroglu 2020	3-generation family, affected father/daughter	F	-	Turkey	-	-	-	-	-	CTRCT	bilateral total cataract, no other ocular/systemic abnormalities	1	2	Johan den Dunnen
00445059	CC0000659	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	cataract	1	1	Johan den Dunnen
00445131	family	PubMed: Wang 2011	3-generation family, affected grandfather/father/son	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., bilateral congenital nuclear cataract, central nuclear opacity affecting embryonic and fetal nucleus lens, ortex remained transparent	1	3	Johan den Dunnen
00445132	FamCBE21PatIV7	PubMed: Santhiya 2010	4-generation family, 4 affected (2F, 2M)	M	yes	India	-	5y	-	-	-	?	see paper; ..., 5y-deceased; developmental delay, microcephaly, congenital heart disease, microcornea, nystagmus, dense nuclear opacity peripheral cortical opacity lens	1	4	Johan den Dunnen
00446366	FamCC02	PubMed: Wang 2023	4-generation family, 8 affected (4F, 4M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	8	Johan den Dunnen
00446367	FamCC07	PubMed: Wang 2023	4-generation family, 7 affected (2F, 5M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	7	Johan den Dunnen
00446368	FamCC21	PubMed: Wang 2023	4-generation family, 10 affected (4F, 6M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	10	Johan den Dunnen
00446369	FamCC47	PubMed: Wang 2023	3-generation family, 6 affected (4F, 2M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	6	Johan den Dunnen
00446370	FamCC165	PubMed: Wang 2023	3-generation family, 6 affected (3F, 3M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	6	Johan den Dunnen
00446371	FamCC198	PubMed: Wang 2023	4-generation family, 6 affected (4F, 2M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	6	Johan den Dunnen
00446372	FamCC248	PubMed: Wang 2023	4-generation family, 5 affected (2F, 3M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	5	Johan den Dunnen
00446373	FamCC281	PubMed: Wang 2023	4-generation family, 3 affected (2F, M)	F;M	-	China	-	-	-	-	-	CTRCT	see paper; ..., coralliform cataract	1	3	Johan den Dunnen

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

Global Variome shared LOVD

CRYGD (crystallin, gamma D)