All individuals with variants in gene HSF4

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.

52 entries on 1 page. Showing entries 1 - 52.

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
00060061	-	-	1 familie, 2 patients	M	-	China	Han	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00060063	FamIIPatII1	PubMed: Bu 2002	2-generation family, 1 affected, unaffected non-carrier parents	M	-	China	-	-	-	-	-	CTRCT	infantile cataract, lamellar cataract	1	1	Johan den Dunnen
00060064	Fam	PubMed: Bu 2002	2-generation family, affected father/child	-	-	China	-	-	-	-	-	CTRCT	unilateral cataract; father 46y-mild cataract similar to senile cataracts with cortical water clefts and lamellar separation	1	2	Johan den Dunnen
00060065	FamI	PubMed: Bu 2002, Journal: Bu 2002	5-generation family, 31 affecteds (13F, 18M), unaffected heterozygous carrier parents	F;M	no	China	-	-	-	-	-	CTRCT5	lameller cataract (Marner type)	1	31	Johan den Dunnen
00060066	Fam;FamDenmark;CC00101	PubMed: Marner 1989, PubMed: Bu 2002, PubMed: Kessel 2021	9-generation family, 17 affected	F;M	-	Denmark	-	-	-	-	-	CTRCT	Marner cataract (zonular stellate lens opacity, anterior polar opacity, early childhood onset)	1	17	Johan den Dunnen
00060211	-	-	-	M	no	China	-	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00060212	-	-	-	M	-	China	-	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00060213	-	-	-	-	no	-	-	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00060214	-	-	-	F	no	China	-	-	-	-	-	CTRCT	cataract, congenital	1	1	Juhua Yang
00065042	-	PubMed: Gillespie 2014, Journal: Gillespie 2014	has affected mother	F	no	-	-	-	-	-	-	CCTRCT	total cataract; horizontal manifest latent nystagmus	1	2	Johan den Dunnen
00065058	-	PubMed: Smaoui 2004	-	-	-	Tunisia	-	-	-	-	-	CTRCT	Congenital cataract	1	22	Deepti Anand
00065059	-	PubMed: Forshew 2005	-	-	-	Pakistan	-	-	-	-	-	CTRCT	Congenital cataract	1	5	Deepti Anand
00065061	-	PubMed: Forshew 2005	-	-	-	Pakistan	-	-	-	-	-	?	-	1	5	Deepti Anand
00065062	-	PubMed: Ke 2006	-	-	-	China	-	-	-	-	-	CTRCT	Congenital cataract	1	7	Deepti Anand
00065063	BUIT-CA01	PubMed: Sajjad 2008	4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives	F;M	yes	Afghanistan;Pakistan	-	-	-	-	-	CTRCT	congenital cataract	1	8	Deepti Anand
00065064	-	PubMed: Shi 2008	-	-	-	-	-	-	-	-	-	CTRCT	Age related cataracts	1	150	Deepti Anand
00065065	-	PubMed: Shi 2008	-	-	-	-	-	-	-	-	-	CTRCT	Age related cataracts	1	150	Deepti Anand
00065068	-	PubMed: Lv 2014	family, 10 affected individuals	-	-	China	-	-	-	-	-	CTRCT	Cortical cataract	1	10	Deepti Anand
00065069	-	PubMed: Liu 2015	-	-	-	China	-	-	-	-	-	CTRCT	Congenital cataract	1	8	Deepti Anand
00260865	Fam60074	PubMed: Chen 2017	4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	-	-	-	-	-	-	-	CTRCT	see paper; …	1	3	Johan den Dunnen
00385473	15014851	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385512	17003685	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	2	1	LOVD
00392264	10	PubMed: Bell 2021	-	M	no	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	congenital cataract	1	1	LOVD
00414338	WHP5	PubMed: Sun 2018	-	M	-	China	-	-	-	-	-	?	-	1	1	LOVD
00414346	WHP13	PubMed: Sun 2018	-	F	-	China	-	-	-	-	-	?	-	1	1	LOVD
00434019	Fam97001Pat3	PubMed: Jiao 2022	2-generation family, affected father and 2 sons	M	-	Ukraine	-	-	-	-	-	CTRCT	congenital nuclear cataract; amblyopia, concomitant strabismus; visual acuity 0.7/0.5	1	3	Johan den Dunnen
00434020	Fam97001Pat4	PubMed: Jiao 2022	son	M	-	Ukraine	-	-	-	-	-	CTRCT	congenital hereditary nuclear cataract; axial myopia, amblyopia, concomitant strabismus, lower eyelid tum(Entropon); visual acuity 0.7/0.5	1	1	Johan den Dunnen
00434032	Fam6	PubMed: Zhai 2017	4-generation family, 2 affected (F, M)	F	-	China	-	-	-	-	-	CTRCT	lamellar, punctate cataract	1	2	Johan den Dunnen
00434082	Pat57	PubMed: Li 2016	-	-	-	China	-	-	-	-	-	CTRCT	bilateral nuclear cataract	1	1	Johan den Dunnen
00434097	CAT-02	PubMed: Cao 2018	3-generation family, 6 affected (4F, 2M)	F;M	-	China	-	-	-	-	-	CTRCT	perinuclear cataract	1	6	Johan den Dunnen
00434098	CAT-12	PubMed: Cao 2018	2-generation family, 2 affected (2M)	M	-	China	-	-	-	-	-	CTRCT	total cataract	1	2	Johan den Dunnen
00434099	CAT-37	PubMed: Cao 2018	2-generation family, 2 affected (F, M)	F;M	-	China	-	-	-	-	-	CTRCT	nuclear cataract	1	2	Johan den Dunnen
00434100	CAT-50	PubMed: Cao 2018	3-generation family, 3 affected (F, 2M)	F;M	-	China	-	-	-	-	-	CTRCT	total cataract	1	3	Johan den Dunnen
00434101	CAT-51	PubMed: Cao 2018	3-generation family, 4 affected (2F, 2M)	F;M	-	China	-	-	-	-	-	CTRCT	total cataract	1	4	Johan den Dunnen
00434102	family	PubMed: Berry 2018	5-generation family, 13 affected (4F, 9M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	CTRCT	see paper; ..., congenital lamellar cataract	1	13	Johan den Dunnen
00434110	CC00171	PubMed: Hansen 2009	2-generation family, affected mother/dauhter	F	-	Denmark	-	-	-	-	-	CTRCT	-	1	2	Johan den Dunnen
00434111	CC00128	PubMed: Hansen 2009, PubMed: Kessel 2021	4-generation family, 15 affected (8F, 7M)	F;M	-	Denmark	-	-	-	-	-	CTRCT	-	1	15	Johan den Dunnen
00434115	CC00109	PubMed: Cao 2018	-	-	-	Denmark	-	-	-	-	-	CTRCT	-	1	1	Johan den Dunnen
00434133	Fam5PatIV12	PubMed: Li 2019	6-generation family, 20 affected (9F, 11M)	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., nuclear cataract, white opacities	1	20	Johan den Dunnen
00434149	family	PubMed: Behnam 2016	6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives	M	-	Iran	-	-	-	-	-	CTRCT	congenital cataract, nystagmus	1	2	Johan den Dunnen
00434150	FamC	PubMed: Forshew 2005	4-generation family, 5 affected brothers/sister (2F, 3M), unaffected heterozygous parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	CTRCT	see paper	1	5	Johan den Dunnen
00434151	FamD	PubMed: Forshew 2005	4-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	CTRCT	see paper	1	5	Johan den Dunnen
00434152	family	PubMed: Smaoui 2004	8-generation family, 22 affected (14F, 8M)	F;M	yes	Tunisia	-	-	-	-	-	CTRCT	see paper	1	22	Johan den Dunnen
00434182	Fam27	PubMed: Fernandez-Alcalde 2021	2-generation family, 1 affected, unaffected heterozygous parents	F	-	Spain	-	-	-	-	-	CTRCT	nuclear cataract; no microphthalmia; no microcornea; no iris malformations	2	1	Johan den Dunnen
00434198	WCC18PatII2	PubMed: Zhang 2018	2-generation family, 4 affected (2F, 2M)	M	-	China	-	-	-	-	-	CTRCT	zonular opacity	1	4	Johan den Dunnen
00434214	Fam32PatI	PubMed: Jackson 2020	-	M	-	-	-	-	-	-	-	?	developmental cataract; congenital aphakia	1	1	Johan den Dunnen
00444998	Pat12	PubMed: Reis 2013	-	-	-	United States	-	-	-	-	-	CTRCT	congenital cataract	1	1	Johan den Dunnen
00445065	CC00111	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	cataract	1	1	Johan den Dunnen
00445075	CC0000888	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	isolated cataract	1	1	Johan den Dunnen
00445133	FamJEE13PatIII4	PubMed: Santhiya 2010	3-generation family, 4 affected (2F, 2M)	F	-	India	-	-	-	-	-	CTRCT	see paper; ..., triangular central cataract surrounded by cataractous dots and fibers in lens cortex; mother bilateral lamellar with peripheral coronary cataract	1	4	Johan den Dunnen
00446490	Fam93Pat256	PubMed: Liu 2023	-	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen
00446519	Fam122Pat325	PubMed: Liu 2023	-	M	-	China	-	-	-	-	-	CTRCT	bilateral congenital cataract	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

HSF4 (heat shock transcription factor 4)