All individuals with variants in gene NHS

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.

81 entries on 1 page. Showing entries 1 - 81.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	5	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	4	1	Yu Sun
00065055	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected maternal great grandmother, maternal cousins	M	no	-	-	-	-	-	-	CCTRCT	L: dense nuclear cataract; R: nuclear cataract, lamellar, posterior polar; L: hypoplastic iris, nystagmus; severe mental retardation	1	3	Johan den Dunnen
00106135	-	-	-	M	no	(Belgium)	-	-	-	-	-	NHS	congenital diaphragmatic hernia (HP:0000776 ), congenital cataract (HP:0000519)	1	1	Molka Kammoun
00173116	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	3	Lucy Raymond
00173117	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173118	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173119	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173120	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	2	Lucy Raymond
00173121	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	2	Lucy Raymond
00173122	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173123	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	9	Lucy Raymond
00173124	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00183167	25644381-FamT149	PubMed: Hu 2016	family, 2 affected, 1 unaffected heterozygous carrier female	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00294999	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	13	Mohammed Faruq
00302949	Pat5	PubMed: Fieremans 2016	-	F	-	-	-	-	-	-	-	ID	see paper; ..., mild intellectual disability, autism spectrum disorder, congenital cataract microphthalmia, abnormal teeth	1	1	Johan den Dunnen
00305287	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00324493	173214	-	-	M	?	Saudi Arabia	-	-	-	-	-	NHS	(+) Abnormality of the lens,(+) Cataract / Cataracta congenita, no family history of cataract	1	1	Andreas Laner
00336008	-	PubMed: Sergouniotis 2016	analysis 181 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	-	1	1	LOVD
00374788	S-1100	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00384308	13587	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385465	14022259	PubMed: Lenassi 2020	retrospective analysis	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392274	27	PubMed: Bell 2021	-	M	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	aphakia nystagmus, marfan syndrome	1	1	LOVD
00392277	37	PubMed: Bell 2021	-	M	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	nuclear	1	1	LOVD
00412197	199898	-	-	M	no	-	-	-	-	-	-	NHS	Developmental cataract, Abnormality of eye movement, Nystagmus, Hypospadias, Motor delay, Amblyopia, Global developmental delay	1	1	Andreas Laner
00414419	WHP86	PubMed: Sun 2018	-	F	-	China	-	-	-	-	-	?	-	1	1	LOVD
00434076	Pat32	PubMed: Li 2016	-	-	-	China	-	-	-	-	-	CTRCT	bilateral cortical cataract	1	1	Johan den Dunnen
00434083	Pat59	PubMed: Li 2016	-	-	-	China	-	-	-	-	-	CTRCT	bilateral nuclear cataract	1	1	Johan den Dunnen
00434129	Fam1PatII1	PubMed: Li 2019	2-generation family, affected mother/son	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract, white opacities	1	2	Johan den Dunnen
00434130	Fam2PatII1	PubMed: Li 2019	2-generation family, affected mother/2 daughters	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear/lamellar cataract, blue punctate opacities	1	3	Johan den Dunnen
00434251	Fam24533	PubMed: Jackson 2020	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?	-	1	1	Johan den Dunnen
00440468	PED3300.1	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00444293	Pat55	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444342	FamPat7	PubMed: Li 2018	2-generation family, 1 affected, unaffected carrier mother	M	-	China	-	-	-	-	-	CTRCT	cataract, microphthalmia, microcornea, nystagmus; long narrow face, small nose, mild anteverted pinnae, dental anomalies	1	1	Johan den Dunnen
00444343	FamPat8	PubMed: Li 2018	2-generation family, 1 affected, unaffected non-carrier parents	M	-	China	-	-	-	-	-	CTRCT	total cataract, microphthalmia, microcornea, nystagmus; large anteverted pinnae, mental retardation	1	1	Johan den Dunnen
00444880	Pat6	PubMed: Fan 2020	2-generation family, 1 affected	-	-	China	-	-	-	-	-	CTRCT	binocular, nuclear cataract	1	1	Johan den Dunnen
00444881	Pat7	PubMed: Fan 2020	2-generation family, 1 affected	-	-	China	-	-	-	-	-	CTRCT	binocular, OD-dot-like, OS-anterior polar dot-like	1	1	Johan den Dunnen
00444890	Fam6PatII1	PubMed: Ma 2016	2-generation family, 3 affected father/2 sons	M	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral dense central nuclear, intellectual disability, large teeth, dysmorphic facies; brother HCD 11.25 AXL 20.88, aphakic glaucoma, 3y-Baerveldt tube; father cerulean cataracts HCD 12 AXL 24.5	1	3	Johan den Dunnen
00444923	Fam40PatIII3	PubMed: Ma 2016	3-generation family, 4 affected (3F, M)	M	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral cataract, left foot insertional polydactyly, ADHD, mild intellectual delay; face small narrow teeth with serrated edge, simple ears; visual acuity R unobtainable L 6/36; mother 32y-bilateral subcapsular cataracts diagnosed; sister 5y-bilateral cataracts diagnosed, oligodontia; grandmother cataracts diagnosed in 50s	1	4	Johan den Dunnen
00444948	10DG2001	PubMed: Patel 2017	family	-	-	-	-	-	-	-	-	CTRCT	cataract, long face, bulbous nose, abnormal dentition; syndromic	1	6	Johan den Dunnen
00445048	CC0000578	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	bilateral cataract, Nance Horan syndrome	1	1	Johan den Dunnen
00445049	CCMC00110	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	bilateral cataract, Nance Horan syndrome	1	1	Johan den Dunnen
00445101	Fam19PatII1	PubMed: Reichsteiner 2021	2-generation family, affected mother/son	M	-	Switzerland	-	-	-	-	-	CTRCT	total cataract; microcornea; microphthalmos; broad forehead, sparse eyebrows, short and flat nose bridge, broad tip of the nose, anteverted nares, broad philtrum, thin upper lip, diastema, deeply rooted and slightly protruding ears, rather small fingers, deep palmar creases, hockey stick on both sides; aphakic glaucoma	1	2	Johan den Dunnen
00445102	Fam20PatI6	PubMed: Reichsteiner 2021	2-generation family, 5 affected (5M), unaffected carrier femal	M	-	Switzerland	-	-	-	-	-	CTRCT	cataract	1	5	Johan den Dunnen
00445103	Fam20PatII1	PubMed: Reichsteiner 2021	nephew	M	-	Switzerland	-	-	-	-	-	CTRCT	total cataract; microcornea; teeth malformations; aphakic glaucoma	1	1	Johan den Dunnen
00445104	Fam20PatII2	PubMed: Reichsteiner 2021	nephew	M	-	Switzerland	-	-	-	-	-	CTRCT	total cataract; microcornea; non-syndromic; no aphakic glaucoma	1	1	Johan den Dunnen
00445105	Fam20PatII3	PubMed: Reichsteiner 2021	nephew	M	-	Switzerland	-	-	-	-	-	CTRCT	total cataract; non-syndromic; no aphakic glaucoma	1	1	Johan den Dunnen
00446429	Fam11Pat39	PubMed: Liu 2023	2-generation family, affected mother/son	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	2	Johan den Dunnen
00446447	Fam30Pat80	PubMed: Liu 2023	2-generation family, 1 affected, unaffected non-carrier parents	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446480	Fam80Pat218	PubMed: Liu 2023	2-generation family, 1 affected, unaffected non-carrier parents	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446530	Fam132Pat352	PubMed: Liu 2023	family, 1 affected	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	2	Johan den Dunnen
00446531	Fam132Pat353	PubMed: Liu 2023	relative	F	-	China	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00446543	Fam156Pat417	PubMed: Liu 2023	-	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446544	Fam158Pat420	PubMed: Liu 2023	family, 1 affected	F	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	2	Johan den Dunnen
00446545	Fam158Pat421	PubMed: Liu 2023	relative	M	-	China	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00450481	F034.1	Journal: Steyaert 2024	patient	M	-	-	-	-	-	-	-	MD	muscular dystrophy, cataract	1	1	Johan den Dunnen
00468332	Fam40Pat10780	PubMed: Guo 2025	patient, no family history	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; postoperative retinal detachment; /; nystagmus; high myopia; 4y-surgery	1	1	Johan den Dunnen
00468333	Fam41Pat18629	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; nystagmus;	1	2	Johan den Dunnen
00468334	Fam42Pat21105	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; nystagmus; 0.8y-surgery	1	2	Johan den Dunnen
00468335	Fam43Pat25146	PubMed: Guo 2025	patient, no family history	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., posterior cataract; microcornea; nystagmus; 5.8y-surgery	1	1	Johan den Dunnen
00468336	Fam44Pat23806	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; 1.0y-surgery	1	2	Johan den Dunnen
00468337	Fam45Pat41088	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., punctate cataract; no surgery	1	2	Johan den Dunnen
00468338	Fam46Pat5351	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract; nystagmus; 0.8y-surgery	1	2	Johan den Dunnen
00468339	Fam46Pat5352	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., sutural cataract; no surgery	1	1	Johan den Dunnen
00468340	Fam47Pat5587	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; microcornea; nystagmus; high myopia; 6.5y-surgery	1	2	Johan den Dunnen
00468341	Fam47Pat5588	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., sutural cataract; postoperative iris, posterior capsule opacification; microcornea; nystagmus; 12.0y-surgery	1	1	Johan den Dunnen
00468342	Fam48Pat5950	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract; microcornea; microphthalmia; nystagmus; no surgery	1	2	Johan den Dunnen
00468343	Fam49Pat11752	PubMed: Guo 2025	patient, no family history	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; postoperative posterior capsule opacification; /; nystagmus; high myopia; 1.0y-surgery	1	1	Johan den Dunnen
00468344	Fam50Pat15415	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract; nystagmus; 0.5y-surgery	1	2	Johan den Dunnen
00468345	Fam50Pat15416	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., sutural cataract; no surgery	1	1	Johan den Dunnen
00468368	Fam63Pat5201	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract; microcornea; microphthalmia; nystagmus; no surgery	1	2	Johan den Dunnen
00468369	Fam63Pat5201	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., sutural cataract; no surgery	1	1	Johan den Dunnen
00468374	Fam66Pat24540	PubMed: Guo 2025	relative	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., lamellar cataract; high myopia; no surgery	1	1	Johan den Dunnen
00468396	Fam81Pat15532	PubMed: Guo 2025	family, several affected	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; postoperative posterior capsule opacification; microcornea; high myopia; 12.0y-surgery	1	2	Johan den Dunnen
00468397	Fam81Pat16525	PubMed: Guo 2025	relative	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; postoperative retinal detachment; microcornea; nystagmus; high myopia; 5.0y-surgery	1	1	Johan den Dunnen
00468501	Pat60	PubMed: Wang 2024	family	M	-	China	-	-	-	-	-	CTRCT	nuclear cataract; no symmetrical opacities; tooth defects, cognitive impairment	1	2	Johan den Dunnen
00468502	Pat61	PubMed: Wang 2024	patient, no family history	M	-	China	-	-	-	-	-	CTRCT	zonular cataract, pulverulent cataract; symmetrical opacities; tooth defects, cognitive impairment	1	1	Johan den Dunnen
00469157	-	PubMed: Retterer 2016	analysis proband (1/3040); possible combination of variants not reported	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00470012	FamLPat21	PubMed: Lecca 2024	5-generation family, 5 affected (2F, 3M)	M	-	Italy	-	-	-	-	-	SPG	see paper; ..., syndromic; bilateral zonular cataract; microcornea, esotropia; microdontia, oligodontia, abnormal auricular pavilion	1	5	Johan den Dunnen
00470013	FamLPat67	PubMed: Lecca 2024	mother	F	-	Italy	-	-	-	-	-	SPG	see paper; ..., syndromic; unilateral (right) cataract; myopia	1	1	Johan den Dunnen
00470020	FamAAPat36	PubMed: Lecca 2024	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Italy	-	-	-	-	-	SPG	see paper; ..., syndromic; bilateral total cataract; horizontal nystagmus; benign external hydrocephalus, premature thelarche, atrial septal defect, intellectual disability/developmental delay (mild)	1	1	Johan den Dunnen

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Global Variome shared LOVD

NHS (Nance-Horan syndrome (congenital cataracts an...))