Disease #00339 (LRS (Larsen syndrome (LRS)), OMIM:150250)

Official abbreviation	LRS
Name	Larsen syndrome (LRS)
OMIM ID	150250
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	93
Phenotype entries for this disease	25
Associated with 2 genes	B4GALT7, FLNB
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-03-03 23:30:27 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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93 entries on 1 page. Showing entries 1 - 93.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00081548	-	-	-	F	no	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Cynthia Silveira
00247339	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247340	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247341	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247342	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247343	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247344	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247346	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247348	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247350	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247352	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247353	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247378	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247379	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247393	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247394	-	-	large family, 13 affecteds	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	13	LOVD
00247397	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247398	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247399	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247400	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247401	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247402	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247403	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247404	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247405	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247406	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247407	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247408	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247409	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247410	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247411	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247412	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247413	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247414	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247415	-	-	Mosaic mutation	-	no	United Kingdom (Great Britain)	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Nils Koelling
00247416	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247417	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247420	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247421	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247422	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247423	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247424	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247426	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247427	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247441	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247442	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247443	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247444	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247445	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247447	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247448	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247449	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247451	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247452	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247453	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247458	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247459	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247460	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247461	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247462	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247463	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247464	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247465	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247466	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247469	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247470	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247471	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247477	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247478	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247479	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247480	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247481	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247482	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247483	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247484	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247485	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247487	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247488	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247489	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247490	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247491	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247492	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247493	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247494	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247495	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247499	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247500	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247503	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	LOVD
00247504	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247505	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247507	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00247515	-	-	-	-	-	-	-	-	-	-	-	LRS	-	FLNB	FLNB	1	1	Stephen Robertson
00402795	Pat1	PubMed: Reyna-Fabian 2024	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	M	yes	(Mexico)	-	-	-	-	none	LRS	congenital glaucoma, buphthalmos, palpebral edema, ecchymosis, corneal opacity, abnormality iris morphology, posterior vitreous detachment, Disproportionate short stature, hypotonia, patent foramen oval.	-	GZF1	1	2	Miriam Erandi Reyna-Fabián

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How to query

Global Variome shared LOVD

ASB1 (ankyrin repeat and SOCS box containing 1)