All individuals with variants in gene FRMD7

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.

90 entries on 1 page. Showing entries 1 - 90.

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)	2	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)	1	1	Yu Sun
00035871	-	-	2-generation family, affected male and heterozygous carrier mother	M	-	Germany	-	-	-	-	-	NYS1	congenital nystagmus	1	1	Andreas Laner
00035872	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035873	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035874	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035875	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00050453	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected and affected2nd degree relatives	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	congenital nystagmus, cerebral palsy, seizures, low-set ears	1	1	Johan den Dunnen
00088176	NYS-001	PubMed: Thomas 2017, Journal: Thomas 2017	3-generation family, 2 affected	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	NYS1	BCVA - 0.2 LogMAR Horizontal Jerk nystagmus	1	2	Mervyn Thomas
00088178	NYS-003	PubMed: Thomas 2017, Journal: Thomas 2017	4-generation family, 10 affected (3F, 7M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	NYS1	BCVA 0.18 LogMAR Horizontal Jerk with periodic alternating nystagmus	1	10	Mervyn Thomas
00088182	NYS-007	PubMed: Thomas 2017, Journal: Thomas 2017	4-generation family, 5 affected (3F, 2M)	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	NYS1	BCVA 0.18 Horizontal jerk nystagmus	1	3	Mervyn Thomas
00173108	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	16	Lucy Raymond
00173109	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	15	Lucy Raymond
00173110	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173111	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00173112	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	61	Lucy Raymond
00173113	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	19	Lucy Raymond
00173114	19377476-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	9	Lucy Raymond
00183319	30290152-FamF385	PubMed: Ansar 2018	5-generation family, 9 affected (5F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	CTRCT	see paper; ..., infantile or early-childhood cataracts and visual impairment	1	9	Johan den Dunnen
00294936	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	55	Mohammed Faruq
00305267	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	29	Mohammed Faruq
00311040	-	-	-	F	-	-	-	-	-	-	-	?	Nystagmus (HP:0000639)	1	1	IMGAG
00320076	172087	-	-	M	?	Germany	-	-	-	-	-	NYS1	Congenital nystagmus, possible foveal hypoplasia	1	1	Andreas Laner
00324433	F3:III-1	-	-	M	-	-	-	-	-	-	-	NYS1	Reduced VA (0.425 logmar BE), Nystagmus, grade 1 foveal hypoplasia,	1	2	Mervyn Thomas
00332405	Pat26	PubMed: Rim 2017	-	F	-	Korea	-	-	-	-	-	retinal disease	horizontal jerk nystagmus; fundus grossly normal; no oculodigital sign	1	1	LOVD
00332406	Pat27	PubMed: Rim 2017	-	M	-	Korea	-	-	-	-	-	retinal disease	horizontal pendular nystagmus; fundus grossly normal; no oculodigital sign	1	1	LOVD
00379746	IR_GH_0088	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	HP:0032037, HP:0000639, HP:0000007, HP:0007750	1	1	Jinu Han
00379807	IR_GH_0173	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	HP:0032037, HP:0000639	1	1	Jinu Han
00379839	2016121204	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00382169	9205558	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382170	8605973	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382171	9347161	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382172	7788128	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382173	9046847	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382174	7364197	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382175	7915474	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382176	6038593	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382177	9265908	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382178	8224311	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382179	9125089	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382180	3088013	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382181	9327538	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382182	10019983	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382183	7575041	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382184	5485887	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382185	9295777	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382186	9228996	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382187	9225723	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382188	7805518	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382189	8216321	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00382190	10050576	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	?	HP:0001423, HP:0006934	1	1	Jinu Han
00383283	-	-	-	M	no	China	-	-	-	-	-	NYS	-	1	1	Juhua Yang
00384258	13219	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	NYS1	-	1	1	LOVD
00384294	13503	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	NYS1	-	1	1	LOVD
00384309	13595	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	NYS1	-	1	1	LOVD
00384374	14063	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	NYS1	-	1	1	LOVD
00393607	-	PubMed: Liu-2020	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399365	F5:II-1	PubMed: Kuht 2020	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	no	Korea	-	-	-	-	-	FVH2	foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)	1	2	Johan den Dunnen
00399366	F5:II-2	PubMed: Kuht 2020	brother	M	no	Korea	-	-	-	-	-	FVH2	foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)	1	1	Johan den Dunnen
00401191	FamPat25	PubMed: Ehrenberg 2021	family, 3 affected sibs	M	-	Israel	Jewish-Ashkenazi	-	-	-	-	?	see paper; ...	1	3	Johan den Dunnen
00401192	FamPat26	PubMed: Ehrenberg 2021	sib	F	-	Israel	Jewish-Ashkenazi	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00401193	FamPat27	PubMed: Ehrenberg 2021	sib	M	-	Israel	Jewish-Ashkenazi	-	-	-	-	?	see paper; ...	1	1	Johan den Dunnen
00434217	Fam46PatI	PubMed: Jackson 2020	-	M	-	-	-	-	-	-	-	?	pendular nystagmus; hypermetropia; astigmatism	1	1	Johan den Dunnen
00434254	Fam10282	PubMed: Jackson 2020	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?	-	1	1	Johan den Dunnen
00434255	Fam18284	PubMed: Jackson 2020	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	?	-	1	1	Johan den Dunnen
00434256	Fam26131	PubMed: Jackson 2020	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00444257	Pat16	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444258	Pat17	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444259	Pat18	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444260	Pat19	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444261	Pat20	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444262	Pat21	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444263	Pat22	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444264	Pat23	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444265	Pat24	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444266	Pat25	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444267	Pat26	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444268	Pat27	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444269	Pat28	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444270	Pat29	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444271	Pat30	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444272	Pat31	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444273	Pat32	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444274	Pat33	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444275	Pat34	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444276	Pat35	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444277	Pat36	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00444278	Pat37	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00447215	NYS-19	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00460682	Pat1	PubMed: Mai 2024	2-generation family, 1 affected	M	-	China	-	-	-	-	-	DMD	see paper; ..., 3y-elevated muscle enzymes levels, CK level 7000‐33568 IU/L; 7m-crawl, 1y-walk, run/jump as peers	1	1	Johan den Dunnen

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Global Variome shared LOVD

FRMD7 (FERM domain containing 7)